Canonical Allele Identifier: CA383456242

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021734T>G (hg19) ; chr12:g.4912568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912568T>G , CM000674.2:g.4912568T>G	GRCh38
NC_000012.11:g.5021734T>G , CM000674.1:g.5021734T>G	GRCh37
NC_000012.10:g.4891995T>G	NCBI36
NG_011815.1:g.7662T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1190T>G MANE Select	ENSP00000371985.3:p.Val397Gly
ENST00000543874.3:n.105+2096T>G
ENST00000639306.1:c.1028T>G	ENSP00000492506.1:p.Val343Gly
ENST00000639680.1:c.76+302T>G
ENST00000382545.3:c.1190T>G	ENSP00000371985.3:p.Val397Gly
ENST00000541095.1:n.105+2096T>G
ENST00000543874.2:n.96+2096T>G
NM_000217.2:c.1190T>G	NP_000208.2:p.Val397Gly
NM_000217.3:c.1190T>G MANE Select	NP_000208.2:p.Val397Gly