Canonical Allele Identifier: CA291762

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 137995
• ClinVar RCV Id: RCV000126426 ; RCV000305432 ; RCV000341556 ; RCV000860165 ; RCV001730573
• dbSNP Id: rs4937391
• ExAC: 11:128786294 G / A
• gnomAD v2: 11-128786294-G-A
• gnomAD v3: 11-128916399-G-A
• gnomAD v4: 11-128916399-G-A
• MyVariant Identifiers: chr11:g.128786294G>A (hg19) ; chr11:g.128916399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916399G>A , CM000673.2:g.128916399G>A	GRCh38
NC_000011.9:g.128786294G>A , CM000673.1:g.128786294G>A	GRCh37
NC_000011.8:g.128291504G>A	NCBI36
NG_023406.2:g.29982G>A , LRG_333:g.29982G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.938-10G>A MANE Select	ENSP00000433295.1:n.938-10G>A
ENST00000338350.4:c.938-10G>A	ENSP00000339960.4:n.938-10G>A
ENST00000529694.5:c.938-10G>A	ENSP00000433295.1:n.938-10G>A
ENST00000533599.1:c.938-10G>A	ENSP00000434266.1:n.938-10G>A
NM_000890.3:c.938-10G>A , LRG_333t1:c.938-10G>A	NP_000881.3:n.938-10G>A
XM_011542809.1:c.938-10G>A	XP_011541111.1:n.938-10G>A
XM_011542810.1:c.938-10G>A	XP_011541112.1:n.938-10G>A
NM_000890.4:c.938-10G>A	NP_000881.3:n.938-10G>A
NM_001354169.1:c.938-10G>A	NP_001341098.1:n.938-10G>A
XM_011542809.2:c.938-10G>A	XP_011541111.1:n.938-10G>A
XM_011542810.3:c.938-10G>A	XP_011541112.1:n.938-10G>A
NM_000890.5:c.938-10G>A MANE Select	NP_000881.3:n.938-10G>A
NM_001354169.2:c.938-10G>A	NP_001341098.1:n.938-10G>A