Canonical Allele Identifier: CA478094402

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4912050-G-A
• COSMIC: COSM3461755
• MyVariant Identifiers: chr12:g.5021216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912050G>A , CM000674.2:g.4912050G>A	GRCh38
NC_000012.11:g.5021216G>A , CM000674.1:g.5021216G>A	GRCh37
NC_000012.10:g.4891477G>A	NCBI36
NG_011815.1:g.7144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.672G>A MANE Select	ENSP00000371985.3:p.Val224=
ENST00000543874.3:n.105+1578G>A
ENST00000639306.1:c.510G>A	ENSP00000492506.1:p.Val170=
ENST00000382545.3:c.672G>A	ENSP00000371985.3:p.Val224=
ENST00000541095.1:n.105+1578G>A
ENST00000543874.2:n.96+1578G>A
NM_000217.2:c.672G>A	NP_000208.2:p.Val224=
NM_000217.3:c.672G>A MANE Select	NP_000208.2:p.Val224=