Canonical Allele Identifier: CA341651

Gene: KCNA1

Linked Data

• dbSNP Id: rs113994117
• MyVariant Identifiers: chr12:g.5021766G>T (hg19) ; chr12:g.4912600G>T (hg38)
• PubMed: PMID:20301785

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912600G>T , CM000674.2:g.4912600G>T	GRCh38
NC_000012.11:g.5021766G>T , CM000674.1:g.5021766G>T	GRCh37
NC_000012.10:g.4892027G>T	NCBI36
NG_011815.1:g.7694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1222G>T MANE Select	ENSP00000371985.3:p.Val408Leu
ENST00000543874.3:n.105+2128G>T
ENST00000639306.1:c.1060G>T	ENSP00000492506.1:p.Val354Leu
ENST00000639680.1:c.76+334G>T
ENST00000382545.3:c.1222G>T	ENSP00000371985.3:p.Val408Leu
ENST00000541095.1:n.105+2128G>T
ENST00000543874.2:n.96+2128G>T
NM_000217.2:c.1222G>T	NP_000208.2:p.Val408Leu
NM_000217.3:c.1222G>T MANE Select	NP_000208.2:p.Val408Leu