ClinVar

NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13298907 (on Assembly GRCh38)
• Chr19: 13409721 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)

HGVS:

• NC_000019.10:g.13298907C>T
• NG_011569.1:g.212554G>A
• NM_000068.4:c.2738G>A
• NM_001127221.2:c.2729G>A
• NM_001127222.2:c.2726G>AMANE SELECT
• NM_001174080.2:c.2729G>A
• NM_023035.3:c.2738G>A
• NP_000059.3:p.Ser913Asn
• NP_001120693.1:p.Ser910Asn
• NP_001120694.1:p.Ser909Asn
• NP_001167551.1:p.Ser910Asn
• NP_075461.2:p.Ser913Asn
• LRG_7:g.212554G>A
• NC_000019.9:g.13409721C>T
• NM_000068.2:c.2729G>A

This HGVS expression did not pass validation

Protein change:

S909N

Links:

dbSNP: rs1248444650

NCBI 1000 Genomes Browser:

rs1248444650

Molecular consequence:

• NM_000068.4:c.2738G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.2729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.2726G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.2729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.2738G>A - missense variant - [Sequence Ontology: SO:0001583]