Canonical Allele Identifier: CA383455292
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163970
ClinVar RCV Id: RCV003092603
gnomAD v4: 12-4912145-T-A
MyVariant Identifiers: chr12:g.5021311T>A (hg19) chr12:g.4912145T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912145T>A , CM000674.2:g.4912145T>A GRCh38
NC_000012.11:g.5021311T>A , CM000674.1:g.5021311T>A GRCh37
NC_000012.10:g.4891572T>A NCBI36
NG_011815.1:g.7239T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.767T>A MANE Select ENSP00000371985.3:p.Phe256Tyr
ENST00000543874.3:n.105+1673T>A
ENST00000639306.1:c.605T>A ENSP00000492506.1:p.Phe202Tyr
ENST00000382545.3:c.767T>A ENSP00000371985.3:p.Phe256Tyr
ENST00000541095.1:n.105+1673T>A
ENST00000543874.2:n.96+1673T>A
NM_000217.2:c.767T>A NP_000208.2:p.Phe256Tyr
NM_000217.3:c.767T>A MANE Select NP_000208.2:p.Phe256Tyr
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