Canonical Allele Identifier: CA383467165
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423839
ClinVar RCV Id: RCV001929131
dbSNP Id: rs779699586
gnomAD v2: 12-5155075-G-A
gnomAD v4: 12-5045909-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045909G>A , CM000674.2:g.5045909G>A GRCh38
NC_000012.11:g.5155075G>A , CM000674.1:g.5155075G>A GRCh37
NC_000012.10:g.5025336G>A NCBI36
NG_012198.1:g.6991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1762G>A MANE Select ENSP00000252321.3:p.Val588Ile
ENST00000252321.4:c.1762G>A ENSP00000252321.3:p.Val588Ile
NM_002234.3:c.1762G>A NP_002225.2:p.Val588Ile
NM_002234.4:c.1762G>A MANE Select NP_002225.2:p.Val588Ile