Canonical Allele Identifier: CA383455025

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021192C>G (hg19) ; chr12:g.4912026C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912026C>G , CM000674.2:g.4912026C>G	GRCh38
NC_000012.11:g.5021192C>G , CM000674.1:g.5021192C>G	GRCh37
NC_000012.10:g.4891453C>G	NCBI36
NG_011815.1:g.7120C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.648C>G MANE Select	ENSP00000371985.3:p.Ile216Met
ENST00000543874.3:n.105+1554C>G
ENST00000639306.1:c.486C>G	ENSP00000492506.1:p.Ile162Met
ENST00000382545.3:c.648C>G	ENSP00000371985.3:p.Ile216Met
ENST00000541095.1:n.105+1554C>G
ENST00000543874.2:n.96+1554C>G
NM_000217.2:c.648C>G	NP_000208.2:p.Ile216Met
NM_000217.3:c.648C>G MANE Select	NP_000208.2:p.Ile216Met