Canonical Allele Identifier: CA231855949

Gene: KCNA1

Linked Data

• dbSNP Id: rs376413513
• gnomAD v2: 12-5021412-A-G
• gnomAD v4: 12-4912246-A-G
• MyVariant Identifiers: chr12:g.5021412A>G (hg19) ; chr12:g.4912246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912246A>G , CM000674.2:g.4912246A>G	GRCh38
NC_000012.11:g.5021412A>G , CM000674.1:g.5021412A>G	GRCh37
NC_000012.10:g.4891673A>G	NCBI36
NG_011815.1:g.7340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.868A>G MANE Select	ENSP00000371985.3:p.Ile290Val
ENST00000543874.3:n.105+1774A>G
ENST00000639306.1:c.706A>G	ENSP00000492506.1:p.Ile236Val
ENST00000639680.1:c.56A>G
ENST00000382545.3:c.868A>G	ENSP00000371985.3:p.Ile290Val
ENST00000541095.1:n.105+1774A>G
ENST00000543874.2:n.96+1774A>G
NM_000217.2:c.868A>G	NP_000208.2:p.Ile290Val
NM_000217.3:c.868A>G MANE Select	NP_000208.2:p.Ile290Val