Canonical Allele Identifier: CA383456436

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021826C>T (hg19) ; chr12:g.4912660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912660C>T , CM000674.2:g.4912660C>T	GRCh38
NC_000012.11:g.5021826C>T , CM000674.1:g.5021826C>T	GRCh37
NC_000012.10:g.4892087C>T	NCBI36
NG_011815.1:g.7754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1282C>T MANE Select	ENSP00000371985.3:p.Leu428Phe
ENST00000543874.3:n.105+2188C>T
ENST00000639306.1:c.1120C>T	ENSP00000492506.1:p.Leu374Phe
ENST00000639680.1:c.76+394C>T
ENST00000382545.3:c.1282C>T	ENSP00000371985.3:p.Leu428Phe
ENST00000541095.1:n.105+2188C>T
ENST00000543874.2:n.96+2188C>T
NM_000217.2:c.1282C>T	NP_000208.2:p.Leu428Phe
NM_000217.3:c.1282C>T MANE Select	NP_000208.2:p.Leu428Phe