Canonical Allele Identifier: CA6399831
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs764965372
gnomAD v2: 12-5154550-C-A
gnomAD v4: 12-5045384-C-A
COSMIC: COSM694297

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045384C>A , CM000674.2:g.5045384C>A GRCh38
NC_000012.11:g.5154550C>A , CM000674.1:g.5154550C>A GRCh37
NC_000012.10:g.5024811C>A NCBI36
NG_012198.1:g.6466C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1237C>A MANE Select ENSP00000252321.3:p.Leu413Ile
ENST00000252321.4:c.1237C>A ENSP00000252321.3:p.Leu413Ile
NM_002234.3:c.1237C>A NP_002225.2:p.Leu413Ile
NM_002234.4:c.1237C>A MANE Select NP_002225.2:p.Leu413Ile