Canonical Allele Identifier: CA6399535

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 469598
• ClinVar RCV Id: RCV000542912 ; RCV001576731
• dbSNP Id: rs201238766
• ExAC: 12:5153392 G / A
• gnomAD: 12:5153392 G / A
• MyVariant Identifiers: chr12:g.5153392G>A (hg19) ; chr12:g.5044226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044226G>A , CM000674.2:g.5044226G>A	GRCh38
NC_000012.11:g.5153392G>A , CM000674.1:g.5153392G>A	GRCh37
NC_000012.10:g.5023653G>A	NCBI36
NG_012198.1:g.5308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.79G>A MANE Select	ENSP00000252321.3:p.Gly27Ser
ENST00000252321.4:c.79G>A	ENSP00000252321.3:p.Gly27Ser
NM_002234.3:c.79G>A	NP_002225.2:p.Gly27Ser
NM_002234.4:c.79G>A MANE Select	NP_002225.2:p.Gly27Ser