Canonical Allele Identifier: CA383454429
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911759G>A , CM000674.2:g.4911759G>A GRCh38
NC_000012.11:g.5020925G>A , CM000674.1:g.5020925G>A GRCh37
NC_000012.10:g.4891186G>A NCBI36
NG_011815.1:g.6853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.381G>A MANE Select ENSP00000371985.3:p.Met127Ile
ENST00000543874.3:n.105+1287G>A
ENST00000639306.1:c.219G>A ENSP00000492506.1:p.Met73Ile
ENST00000382545.3:c.381G>A ENSP00000371985.3:p.Met127Ile
ENST00000541095.1:n.105+1287G>A
ENST00000543874.2:n.96+1287G>A
NM_000217.2:c.381G>A NP_000208.2:p.Met127Ile
NM_000217.3:c.381G>A MANE Select NP_000208.2:p.Met127Ile