Canonical Allele Identifier: CA478095026

Gene: KCNA1

Linked Data

• dbSNP Id: rs2137674006
• gnomAD v3: 12-4912617-T-C
• gnomAD v4: 12-4912617-T-C
• MyVariant Identifiers: chr12:g.5021783T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912617T>C , CM000674.2:g.4912617T>C	GRCh38
NC_000012.11:g.5021783T>C , CM000674.1:g.5021783T>C	GRCh37
NC_000012.10:g.4892044T>C	NCBI36
NG_011815.1:g.7711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1239T>C MANE Select	ENSP00000371985.3:p.Tyr413=
ENST00000543874.3:n.105+2145T>C
ENST00000639306.1:c.1077T>C	ENSP00000492506.1:p.Tyr359=
ENST00000639680.1:c.76+351T>C
ENST00000382545.3:c.1239T>C	ENSP00000371985.3:p.Tyr413=
ENST00000541095.1:n.105+2145T>C
ENST00000543874.2:n.96+2145T>C
NM_000217.2:c.1239T>C	NP_000208.2:p.Tyr413=
NM_000217.3:c.1239T>C MANE Select	NP_000208.2:p.Tyr413=