Canonical Allele Identifier: CA383456243

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021736C>A (hg19) ; chr12:g.4912570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912570C>A , CM000674.2:g.4912570C>A	GRCh38
NC_000012.11:g.5021736C>A , CM000674.1:g.5021736C>A	GRCh37
NC_000012.10:g.4891997C>A	NCBI36
NG_011815.1:g.7664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1192C>A MANE Select	ENSP00000371985.3:p.Leu398Ile
ENST00000543874.3:n.105+2098C>A
ENST00000639306.1:c.1030C>A	ENSP00000492506.1:p.Leu344Ile
ENST00000639680.1:c.76+304C>A
ENST00000382545.3:c.1192C>A	ENSP00000371985.3:p.Leu398Ile
ENST00000541095.1:n.105+2098C>A
ENST00000543874.2:n.96+2098C>A
NM_000217.2:c.1192C>A	NP_000208.2:p.Leu398Ile
NM_000217.3:c.1192C>A MANE Select	NP_000208.2:p.Leu398Ile