Canonical Allele Identifier: CA232429

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 135677
• ClinVar RCV Id: RCV000122748 ; RCV002381433 ; RCV001084390
• dbSNP Id: rs200170681
• ExAC: 11:128781907 G / A
• gnomAD v2: 11-128781907-G-A
• gnomAD v3: 11-128912012-G-A
• gnomAD v4: 11-128912012-G-A
• MyVariant Identifiers: chr11:g.128781907G>A (hg19) ; chr11:g.128912012G>A (hg38)
• PubMed: PMID:17967416 ; PMID:24420545

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128912012G>A , CM000673.2:g.128912012G>A	GRCh38
NC_000011.9:g.128781907G>A , CM000673.1:g.128781907G>A	GRCh37
NC_000011.8:g.128287117G>A	NCBI36
NG_023406.2:g.25595G>A , LRG_333:g.25595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.739G>A MANE Select	ENSP00000433295.1:p.Gly247Arg
ENST00000338350.4:c.739G>A	ENSP00000339960.4:p.Gly247Arg
ENST00000529694.5:c.739G>A	ENSP00000433295.1:p.Gly247Arg
ENST00000533599.1:c.739G>A	ENSP00000434266.1:p.Gly247Arg
NM_000890.3:c.739G>A , LRG_333t1:c.739G>A	NP_000881.3:p.Gly247Arg
XM_011542809.1:c.739G>A	XP_011541111.1:p.Gly247Arg
XM_011542810.1:c.739G>A	XP_011541112.1:p.Gly247Arg
NM_000890.4:c.739G>A	NP_000881.3:p.Gly247Arg
NM_001354169.1:c.739G>A	NP_001341098.1:p.Gly247Arg
XM_011542809.2:c.739G>A	XP_011541111.1:p.Gly247Arg
XM_011542810.3:c.739G>A	XP_011541112.1:p.Gly247Arg
NM_000890.5:c.739G>A MANE Select	NP_000881.3:p.Gly247Arg
NM_001354169.2:c.739G>A	NP_001341098.1:p.Gly247Arg