Canonical Allele Identifier: CA199949

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 191572
• ClinVar RCV Id: RCV001682881
• dbSNP Id: rs76708779
• ExAC: 12:5154463 G / A
• gnomAD v2: 12-5154463-G-A
• gnomAD v3: 12-5045297-G-A
• gnomAD v4: 12-5045297-G-A
• COSMIC: COSM1322447
• MyVariant Identifiers: chr12:g.5154463G>A (hg19) ; chr12:g.5045297G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045297G>A , CM000674.2:g.5045297G>A	GRCh38
NC_000012.11:g.5154463G>A , CM000674.1:g.5154463G>A	GRCh37
NC_000012.10:g.5024724G>A	NCBI36
NG_012198.1:g.6379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.1150G>A MANE Select	ENSP00000252321.3:p.Gly384Arg
ENST00000252321.4:c.1150G>A	ENSP00000252321.3:p.Gly384Arg
NM_002234.3:c.1150G>A	NP_002225.2:p.Gly384Arg
NM_002234.4:c.1150G>A MANE Select	NP_002225.2:p.Gly384Arg