ClinVar

NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)

Gene:

KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 712577 (on Assembly GRCh38)
• Chr9: 712577 (on Assembly GRCh37)

Preferred name:

NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)

HGVS:

• NC_000009.12:g.712577G>A
• NG_016331.2:g.247284G>A
• NM_001256876.3:c.1811G>A
• NM_001256877.3:c.1811G>A
• NM_001354331.2:c.1811G>A
• NM_001354332.2:c.1811G>A
• NM_001354333.2:c.1337G>A
• NM_001354334.2:c.1811G>A
• NM_001354335.2:c.1337G>A
• NM_001354336.2:c.1337G>A
• NM_001354337.2:c.1337G>A
• NM_001354338.2:c.1337G>A
• NM_001354339.2:c.1337G>A
• NM_001354340.2:c.1337G>A
• NM_001354341.2:c.1337G>A
• NM_001354342.2:c.1337G>A
• NM_001354343.2:c.1337G>A
• NM_001354344.2:c.1337G>A
• NM_015158.5:c.1811G>AMANE SELECT
• NM_153186.6:c.1337G>A
• NP_001243805.1:p.Ser604Asn
• NP_001243806.1:p.Ser604Asn
• NP_001341260.1:p.Ser604Asn
• NP_001341261.1:p.Ser604Asn
• NP_001341262.1:p.Ser446Asn
• NP_001341263.1:p.Ser604Asn
• NP_001341264.1:p.Ser446Asn
• NP_001341265.1:p.Ser446Asn
• NP_001341266.1:p.Ser446Asn
• NP_001341267.1:p.Ser446Asn
• NP_001341268.1:p.Ser446Asn
• NP_001341269.1:p.Ser446Asn
• NP_001341270.1:p.Ser446Asn
• NP_001341271.1:p.Ser446Asn
• NP_001341272.1:p.Ser446Asn
• NP_001341273.1:p.Ser446Asn
• NP_055973.2:p.Ser604Asn
• NP_694856.1:p.Ser446Asn
• NC_000009.11:g.712577G>A
• NM_015158.3:c.1811G>A
• NR_148869.2:n.1973G>A

This HGVS expression did not pass validation

Protein change:

S446N

Links:

dbSNP: rs754470891

NCBI 1000 Genomes Browser:

rs754470891

Molecular consequence:

• NM_001256876.3:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256877.3:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354331.2:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354332.2:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354333.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354334.2:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354335.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354336.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354337.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354338.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354339.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354340.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354341.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354342.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354343.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354344.2:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015158.5:c.1811G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153186.6:c.1337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148869.2:n.1973G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]