Canonical Allele Identifier: CA603072767
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1446113976
gnomAD v2: 12-5155171-G-A
gnomAD v4: 12-5046005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046005G>A , CM000674.2:g.5046005G>A GRCh38
NC_000012.11:g.5155171G>A , CM000674.1:g.5155171G>A GRCh37
NC_000012.10:g.5025432G>A NCBI36
NG_012198.1:g.7087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.*16G>A MANE Select ENSP00000252321.3:n.*16G>A
ENST00000252321.4:c.*16G>A ENSP00000252321.3:n.*16G>A
NM_002234.3:c.*16G>A NP_002225.2:n.*16G>A
NM_002234.4:c.*16G>A MANE Select NP_002225.2:n.*16G>A