Canonical Allele Identifier: CA383456244

Gene: KCNA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1192C>G MANE Select	ENSP00000371985.3:p.Leu398Val
ENST00000543874.3:n.105+2098C>G
ENST00000639306.1:c.1030C>G	ENSP00000492506.1:p.Leu344Val
ENST00000639680.1:c.76+304C>G
ENST00000382545.3:c.1192C>G	ENSP00000371985.3:p.Leu398Val
ENST00000541095.1:n.105+2098C>G
ENST00000543874.2:n.96+2098C>G
NM_000217.2:c.1192C>G	NP_000208.2:p.Leu398Val
NM_000217.3:c.1192C>G MANE Select	NP_000208.2:p.Leu398Val