Canonical Allele Identifier: CA6399690

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 537307
• ClinVar RCV Id: RCV000646127
• dbSNP Id: rs367992628
• ExAC: 12:5153980 G / A
• gnomAD v2: 12-5153980-G-A
• gnomAD v3: 12-5044814-G-A
• gnomAD v4: 12-5044814-G-A
• MyVariant Identifiers: chr12:g.5153980G>A (hg19) ; chr12:g.5044814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044814G>A , CM000674.2:g.5044814G>A	GRCh38
NC_000012.11:g.5153980G>A , CM000674.1:g.5153980G>A	GRCh37
NC_000012.10:g.5024241G>A	NCBI36
NG_012198.1:g.5896G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.667G>A MANE Select	ENSP00000252321.3:p.Glu223Lys
ENST00000252321.4:c.667G>A	ENSP00000252321.3:p.Glu223Lys
NM_002234.3:c.667G>A	NP_002225.2:p.Glu223Lys
NM_002234.4:c.667G>A MANE Select	NP_002225.2:p.Glu223Lys