Canonical Allele Identifier: CA199945

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 191570
• ClinVar RCV Id: RCV001572727
• dbSNP Id: rs12720442
• ExAC: 12:5154064 G / A
• gnomAD v2: 12-5154064-G-A
• gnomAD v3: 12-5044898-G-A
• gnomAD v4: 12-5044898-G-A
• COSMIC: COSM1559388
• MyVariant Identifiers: chr12:g.5154064G>A (hg19) ; chr12:g.5044898G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044898G>A , CM000674.2:g.5044898G>A	GRCh38
NC_000012.11:g.5154064G>A , CM000674.1:g.5154064G>A	GRCh37
NC_000012.10:g.5024325G>A	NCBI36
NG_012198.1:g.5980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.751G>A MANE Select	ENSP00000252321.3:p.Ala251Thr
ENST00000252321.4:c.751G>A	ENSP00000252321.3:p.Ala251Thr
NM_002234.3:c.751G>A	NP_002225.2:p.Ala251Thr
NM_002234.4:c.751G>A MANE Select	NP_002225.2:p.Ala251Thr