Canonical Allele Identifier: CA6399516

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309148
• ClinVar RCV Id: RCV000320846 ; RCV000531086 ; RCV004549669
• dbSNP Id: rs147828649
• ExAC: 12:5022008 G / A
• gnomAD v2: 12-5022008-G-A
• gnomAD v3: 12-4912842-G-A
• gnomAD v4: 12-4912842-G-A
• MyVariant Identifiers: chr12:g.5022008G>A (hg19) ; chr12:g.4912842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912842G>A , CM000674.2:g.4912842G>A	GRCh38
NC_000012.11:g.5022008G>A , CM000674.1:g.5022008G>A	GRCh37
NC_000012.10:g.4892269G>A	NCBI36
NG_011815.1:g.7936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1464G>A MANE Select	ENSP00000371985.3:p.Lys488=
ENST00000543874.3:n.105+2370G>A
ENST00000639306.1:c.1302G>A	ENSP00000492506.1:p.Lys434=
ENST00000639680.1:c.76+576G>A
ENST00000382545.3:c.1464G>A	ENSP00000371985.3:p.Lys488=
ENST00000541095.1:n.105+2370G>A
ENST00000543874.2:n.96+2370G>A
NM_000217.2:c.1464G>A	NP_000208.2:p.Lys488=
NM_000217.3:c.1464G>A MANE Select	NP_000208.2:p.Lys488=