Canonical Allele Identifier: CA6357912

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 2856410
• ClinVar RCV Id: RCV003648552
• dbSNP Id: rs775915273
• ExAC: 11:128781827 G / A
• gnomAD v2: 11-128781827-G-A
• gnomAD v4: 11-128911932-G-A
• COSMIC: COSM3445207
• MyVariant Identifiers: chr11:g.128781827G>A (hg19) ; chr11:g.128911932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128911932G>A , CM000673.2:g.128911932G>A	GRCh38
NC_000011.9:g.128781827G>A , CM000673.1:g.128781827G>A	GRCh37
NC_000011.8:g.128287037G>A	NCBI36
NG_023406.2:g.25515G>A , LRG_333:g.25515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.659G>A MANE Select	ENSP00000433295.1:p.Arg220Gln
ENST00000338350.4:c.659G>A	ENSP00000339960.4:p.Arg220Gln
ENST00000529694.5:c.659G>A	ENSP00000433295.1:p.Arg220Gln
ENST00000533599.1:c.659G>A	ENSP00000434266.1:p.Arg220Gln
NM_000890.3:c.659G>A , LRG_333t1:c.659G>A	NP_000881.3:p.Arg220Gln
XM_011542809.1:c.659G>A	XP_011541111.1:p.Arg220Gln
XM_011542810.1:c.659G>A	XP_011541112.1:p.Arg220Gln
NM_000890.4:c.659G>A	NP_000881.3:p.Arg220Gln
NM_001354169.1:c.659G>A	NP_001341098.1:p.Arg220Gln
XM_011542809.2:c.659G>A	XP_011541111.1:p.Arg220Gln
XM_011542810.3:c.659G>A	XP_011541112.1:p.Arg220Gln
NM_000890.5:c.659G>A MANE Select	NP_000881.3:p.Arg220Gln
NM_001354169.2:c.659G>A	NP_001341098.1:p.Arg220Gln