Canonical Allele Identifier: CA10642554

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309224
• ClinVar RCV Id: RCV000282748 ; RCV000377298 ; RCV001788196
• dbSNP Id: rs11063406
• gnomAD v2: 12-5027177-T-C
• gnomAD v3: 12-4918011-T-C
• gnomAD v4: 12-4918011-T-C
• MyVariant Identifiers: chr12:g.5027177T>C (hg19) ; chr12:g.4918011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4918011T>C , CM000674.2:g.4918011T>C	GRCh38
NC_000012.11:g.5027177T>C , CM000674.1:g.5027177T>C	GRCh37
NC_000012.10:g.4897438T>C	NCBI36
NG_011815.1:g.13105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.*5145T>C MANE Select	ENSP00000371985.3:n.*5145T>C
ENST00000543874.3:n.331T>C
ENST00000639306.1:c.2409T>C	ENSP00000492506.1:n.2409T>C
ENST00000639680.1:c.385T>C
ENST00000382545.3:c.*5145T>C	ENSP00000371985.3:n.*5145T>C
ENST00000541095.1:n.105+7539T>C
ENST00000543874.2:n.322T>C
NM_000217.2:c.*5145T>C	NP_000208.2:n.*5145T>C
NM_000217.3:c.*5145T>C MANE Select	NP_000208.2:n.*5145T>C