Canonical Allele Identifier: CA153257

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 21128
• ClinVar RCV Id: RCV000117315 ; RCV000288623 ; RCV000390363 ; RCV000712105
• dbSNP Id: rs1048500
• ExAC: 12:5021228 T / C
• gnomAD v2: 12-5021228-T-C
• gnomAD v3: 12-4912062-T-C
• gnomAD v4: 12-4912062-T-C
• MyVariant Identifiers: chr12:g.5021228T>C (hg19) ; chr12:g.4912062T>C (hg38)
• PubMed: PMID:20301785

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912062T>C , CM000674.2:g.4912062T>C	GRCh38
NC_000012.11:g.5021228T>C , CM000674.1:g.5021228T>C	GRCh37
NC_000012.10:g.4891489T>C	NCBI36
NG_011815.1:g.7156T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.684T>C MANE Select	ENSP00000371985.3:p.Cys228=
ENST00000543874.3:n.105+1590T>C
ENST00000639306.1:c.522T>C	ENSP00000492506.1:p.Cys174=
ENST00000382545.3:c.684T>C	ENSP00000371985.3:p.Cys228=
ENST00000541095.1:n.105+1590T>C
ENST00000543874.2:n.96+1590T>C
NM_000217.2:c.684T>C	NP_000208.2:p.Cys228=
NM_000217.3:c.684T>C MANE Select	NP_000208.2:p.Cys228=