Canonical Allele Identifier: CA10632959

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309155
• ClinVar RCV Id: RCV000264165 ; RCV000361102
• dbSNP Id: rs764863360
• gnomAD v2: 12-5022518-G-C
• gnomAD v3: 12-4913352-G-C
• gnomAD v4: 12-4913352-G-C
• MyVariant Identifiers: chr12:g.5022518G>C (hg19) ; chr12:g.4913352G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4913352G>C , CM000674.2:g.4913352G>C	GRCh38
NC_000012.11:g.5022518G>C , CM000674.1:g.5022518G>C	GRCh37
NC_000012.10:g.4892779G>C	NCBI36
NG_011815.1:g.8446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.*486G>C MANE Select	ENSP00000371985.3:n.*486G>C
ENST00000543874.3:n.105+2880G>C
ENST00000639306.1:c.1812G>C	ENSP00000492506.1:n.1812G>C
ENST00000639680.1:c.77-289G>C
ENST00000382545.3:c.*486G>C	ENSP00000371985.3:n.*486G>C
ENST00000541095.1:n.105+2880G>C
ENST00000543874.2:n.96+2880G>C
NM_000217.2:c.*486G>C	NP_000208.2:n.*486G>C
NM_000217.3:c.*486G>C MANE Select	NP_000208.2:n.*486G>C