Canonical Allele Identifier: CA10632972

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309170
• ClinVar RCV Id: RCV000285843 ; RCV000324447 ; RCV002262965
• dbSNP Id: rs536746031
• gnomAD v2: 12-5023501-G-A
• gnomAD v3: 12-4914335-G-A
• gnomAD v4: 12-4914335-G-A
• MyVariant Identifiers: chr12:g.5023501G>A (hg19) ; chr12:g.4914335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4914335G>A , CM000674.2:g.4914335G>A	GRCh38
NC_000012.11:g.5023501G>A , CM000674.1:g.5023501G>A	GRCh37
NC_000012.10:g.4893762G>A	NCBI36
NG_011815.1:g.9429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.*1469G>A MANE Select	ENSP00000371985.3:n.*1469G>A
ENST00000543874.3:n.106-3451G>A
ENST00000639306.1:c.2183+612G>A	ENSP00000492506.1:n.2183+612G>A
ENST00000639680.1:c.159+612G>A
ENST00000382545.3:c.*1469G>A	ENSP00000371985.3:n.*1469G>A
ENST00000541095.1:n.105+3863G>A
ENST00000543874.2:n.97-3451G>A
NM_000217.2:c.*1469G>A	NP_000208.2:n.*1469G>A
NM_000217.3:c.*1469G>A MANE Select	NP_000208.2:n.*1469G>A