Canonical Allele Identifier: CA383249743

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 1306130
• ClinVar RCV Id: RCV001767083
• dbSNP Id: rs1475852457
• gnomAD v2: 11-128781872-G-A
• gnomAD v3: 11-128911977-G-A
• gnomAD v4: 11-128911977-G-A
• COSMIC: COSM4440293
• MyVariant Identifiers: chr11:g.128781872G>A (hg19) ; chr11:g.128911977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128911977G>A , CM000673.2:g.128911977G>A	GRCh38
NC_000011.9:g.128781872G>A , CM000673.1:g.128781872G>A	GRCh37
NC_000011.8:g.128287082G>A	NCBI36
NG_023406.2:g.25560G>A , LRG_333:g.25560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.704G>A MANE Select	ENSP00000433295.1:p.Arg235Gln
ENST00000338350.4:c.704G>A	ENSP00000339960.4:p.Arg235Gln
ENST00000529694.5:c.704G>A	ENSP00000433295.1:p.Arg235Gln
ENST00000533599.1:c.704G>A	ENSP00000434266.1:p.Arg235Gln
NM_000890.3:c.704G>A , LRG_333t1:c.704G>A	NP_000881.3:p.Arg235Gln
XM_011542809.1:c.704G>A	XP_011541111.1:p.Arg235Gln
XM_011542810.1:c.704G>A	XP_011541112.1:p.Arg235Gln
NM_000890.4:c.704G>A	NP_000881.3:p.Arg235Gln
NM_001354169.1:c.704G>A	NP_001341098.1:p.Arg235Gln
XM_011542809.2:c.704G>A	XP_011541111.1:p.Arg235Gln
XM_011542810.3:c.704G>A	XP_011541112.1:p.Arg235Gln
NM_000890.5:c.704G>A MANE Select	NP_000881.3:p.Arg235Gln
NM_001354169.2:c.704G>A	NP_001341098.1:p.Arg235Gln