Canonical Allele Identifier: CA944247801
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1862779392
gnomAD v3: 12-5046422-G-A
gnomAD v4: 12-5046422-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046422G>A , CM000674.2:g.5046422G>A GRCh38
NC_000012.11:g.5155588G>A , CM000674.1:g.5155588G>A GRCh37
NC_000012.10:g.5025849G>A NCBI36
NG_012198.1:g.7504G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.*433G>A MANE Select ENSP00000252321.3:n.*433G>A
ENST00000252321.4:c.*433G>A ENSP00000252321.3:n.*433G>A
NM_002234.3:c.*433G>A NP_002225.2:n.*433G>A
NM_002234.4:c.*433G>A MANE Select NP_002225.2:n.*433G>A