Canonical Allele Identifier: CA6399944
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs768185530
gnomAD v2: 12-5155089-C-T
gnomAD v4: 12-5045923-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045923C>T , CM000674.2:g.5045923C>T GRCh38
NC_000012.11:g.5155089C>T , CM000674.1:g.5155089C>T GRCh37
NC_000012.10:g.5025350C>T NCBI36
NG_012198.1:g.7005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1776C>T MANE Select ENSP00000252321.3:p.Ser592=
ENST00000252321.4:c.1776C>T ENSP00000252321.3:p.Ser592=
NM_002234.3:c.1776C>T NP_002225.2:p.Ser592=
NM_002234.4:c.1776C>T MANE Select NP_002225.2:p.Ser592=