ClinVar

NM_000719.7(CACNA1C):c.5741T>A (p.Ile1914Asn)

Genes:

CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 2686226 (on Assembly GRCh38)
• Chr12: 2795392 (on Assembly GRCh37)

Preferred name:

NM_000719.7(CACNA1C):c.5741T>A (p.Ile1914Asn)

HGVS:

• NC_000012.12:g.2686226T>A
• NG_008801.2:g.720441T>A
• NM_000719.7:c.5741T>AMANE SELECT
• NM_001129827.2:c.5885T>A
• NM_001129829.2:c.5864T>A
• NM_001129830.3:c.5846T>A
• NM_001129831.2:c.5825T>A
• NM_001129832.2:c.5801T>A
• NM_001129833.2:c.5798T>A
• NM_001129834.2:c.5798T>A
• NM_001129835.2:c.5798T>A
• NM_001129836.2:c.5792T>A
• NM_001129837.2:c.5765T>A
• NM_001129838.2:c.5765T>A
• NM_001129839.2:c.5759T>A
• NM_001129840.2:c.5741T>A
• NM_001129841.2:c.5741T>A
• NM_001129842.2:c.5741T>A
• NM_001129843.2:c.5741T>A
• NM_001129844.2:c.5732T>A
• NM_001129846.2:c.5708T>A
• NM_001167623.2:c.5741T>A
• NM_001167624.3:c.5846T>A
• NM_001167625.2:c.5921T>A
• NM_199460.4:c.5990T>A
• NP_000710.5:p.Ile1914Asn
• NP_000710.5:p.Ile1914Asn
• NP_001123299.1:p.Ile1962Asn
• NP_001123299.1:p.Ile1962Asn
• NP_001123301.1:p.Ile1955Asn
• NP_001123302.1:p.Ile1949Asn
• NP_001123302.2:p.Ile1949Asn
• NP_001123303.1:p.Ile1942Asn
• NP_001123304.1:p.Ile1934Asn
• NP_001123305.1:p.Ile1933Asn
• NP_001123306.1:p.Ile1933Asn
• NP_001123307.1:p.Ile1933Asn
• NP_001123308.1:p.Ile1931Asn
• NP_001123309.1:p.Ile1922Asn
• NP_001123310.1:p.Ile1922Asn
• NP_001123311.1:p.Ile1920Asn
• NP_001123312.1:p.Ile1914Asn
• NP_001123312.1:p.Ile1914Asn
• NP_001123313.1:p.Ile1914Asn
• NP_001123314.1:p.Ile1914Asn
• NP_001123315.1:p.Ile1914Asn
• NP_001123316.1:p.Ile1911Asn
• NP_001123318.1:p.Ile1903Asn
• NP_001161095.1:p.Ile1914Asn
• NP_001161096.2:p.Ile1949Asn
• NP_001161097.1:p.Ile1974Asn
• NP_955630.3:p.Ile1997Asn
• LRG_334t1:c.5741T>A
• LRG_334t2:c.5885T>A
• LRG_334t3:c.5846T>A
• LRG_334t4:c.5741T>A
• LRG_334:g.720441T>A
• LRG_334p1:p.Ile1914Asn
• LRG_334p2:p.Ile1962Asn
• LRG_334p3:p.Ile1949Asn
• LRG_334p4:p.Ile1914Asn
• NC_000012.11:g.2795392T>A
• NM_000719.6:c.5741T>A
• NM_001129827.1:c.5885T>A
• NM_001129830.1:c.5846T>A
• NM_001129840.1:c.5741T>A

This HGVS expression did not pass validation

Protein change:

I1903N

Molecular consequence:

• NM_000719.7:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129827.2:c.5885T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129829.2:c.5864T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129830.3:c.5846T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129831.2:c.5825T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129832.2:c.5801T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129833.2:c.5798T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129834.2:c.5798T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129835.2:c.5798T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129836.2:c.5792T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129837.2:c.5765T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129838.2:c.5765T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129839.2:c.5759T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129840.2:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129841.2:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129842.2:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129843.2:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129844.2:c.5732T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001129846.2:c.5708T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167623.2:c.5741T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167624.3:c.5846T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167625.2:c.5921T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_199460.4:c.5990T>A - missense variant - [Sequence Ontology: SO:0001583]