Canonical Allele Identifier: CA6399883

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 1036453
• ClinVar RCV Id: RCV001339469
• dbSNP Id: rs140711603
• ExAC: 12:5154820 G / A
• gnomAD v2: 12-5154820-G-A
• gnomAD v3: 12-5045654-G-A
• gnomAD v4: 12-5045654-G-A
• MyVariant Identifiers: chr12:g.5154820G>A (hg19) ; chr12:g.5045654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045654G>A , CM000674.2:g.5045654G>A	GRCh38
NC_000012.11:g.5154820G>A , CM000674.1:g.5154820G>A	GRCh37
NC_000012.10:g.5025081G>A	NCBI36
NG_012198.1:g.6736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1507G>A MANE Select	ENSP00000252321.3:p.Ala503Thr
ENST00000252321.4:c.1507G>A	ENSP00000252321.3:p.Ala503Thr
NM_002234.3:c.1507G>A	NP_002225.2:p.Ala503Thr
NM_002234.4:c.1507G>A MANE Select	NP_002225.2:p.Ala503Thr