Canonical Allele Identifier: CA199951

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 191573
• ClinVar RCV Id: RCV000171809 ; RCV000528153 ; RCV000584775 ; RCV001572979
• dbSNP Id: rs12720445
• ExAC: 12:5155046 G / A
• gnomAD v2: 12-5155046-G-A
• gnomAD v3: 12-5045880-G-A
• gnomAD v4: 12-5045880-G-A
• MyVariant Identifiers: chr12:g.5155046G>A (hg19) ; chr12:g.5045880G>A (hg38)
• PubMed: PMID:15735608 ; PMID:23861362 ; PMID:24068186

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045880G>A , CM000674.2:g.5045880G>A	GRCh38
NC_000012.11:g.5155046G>A , CM000674.1:g.5155046G>A	GRCh37
NC_000012.10:g.5025307G>A	NCBI36
NG_012198.1:g.6962G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.1733G>A MANE Select	ENSP00000252321.3:p.Arg578Lys
ENST00000252321.4:c.1733G>A	ENSP00000252321.3:p.Arg578Lys
NM_002234.3:c.1733G>A	NP_002225.2:p.Arg578Lys
NM_002234.4:c.1733G>A MANE Select	NP_002225.2:p.Arg578Lys