Canonical Allele Identifier: CA6399538

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 309332
• ClinVar RCV Id: RCV000422515 ; RCV001084961 ; RCV002285157
• dbSNP Id: rs61737395
• ExAC: 12:5153405 G / T
• gnomAD v2: 12-5153405-G-T
• gnomAD v3: 12-5044239-G-T
• gnomAD v4: 12-5044239-G-T
• MyVariant Identifiers: chr12:g.5153405G>T (hg19) ; chr12:g.5044239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044239G>T , CM000674.2:g.5044239G>T	GRCh38
NC_000012.11:g.5153405G>T , CM000674.1:g.5153405G>T	GRCh37
NC_000012.10:g.5023666G>T	NCBI36
NG_012198.1:g.5321G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.92G>T MANE Select	ENSP00000252321.3:p.Gly31Val
ENST00000252321.4:c.92G>T	ENSP00000252321.3:p.Gly31Val
NM_002234.3:c.92G>T	NP_002225.2:p.Gly31Val
NM_002234.4:c.92G>T MANE Select	NP_002225.2:p.Gly31Val