Canonical Allele Identifier: CA254574

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 8856
• ClinVar RCV Id: RCV000009405 ; RCV000193019 ; RCV000312115 ; RCV000865749 ; RCV003162221
• dbSNP Id: rs199830292
• ExAC: 11:128786525 G / C
• gnomAD v2: 11-128786525-G-C
• gnomAD v3: 11-128916630-G-C
• gnomAD v4: 11-128916630-G-C
• MyVariant Identifiers: chr11:g.128786525G>C (hg19) ; chr11:g.128916630G>C (hg38)
• PubMed: PMID:20301441 ; PMID:20560207 ; PMID:24574546

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916630G>C , CM000673.2:g.128916630G>C	GRCh38
NC_000011.9:g.128786525G>C , CM000673.1:g.128786525G>C	GRCh37
NC_000011.8:g.128291735G>C	NCBI36
NG_023406.2:g.30213G>C , LRG_333:g.30213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.1159G>C MANE Select	ENSP00000433295.1:p.Gly387Arg
ENST00000338350.4:c.1159G>C	ENSP00000339960.4:p.Gly387Arg
ENST00000529694.5:c.1159G>C	ENSP00000433295.1:p.Gly387Arg
ENST00000533599.1:c.1159G>C	ENSP00000434266.1:p.Gly387Arg
NM_000890.3:c.1159G>C , LRG_333t1:c.1159G>C	NP_000881.3:p.Gly387Arg
XM_011542809.1:c.1159G>C	XP_011541111.1:p.Gly387Arg
XM_011542810.1:c.1159G>C	XP_011541112.1:p.Gly387Arg
NM_000890.4:c.1159G>C	NP_000881.3:p.Gly387Arg
NM_001354169.1:c.1159G>C	NP_001341098.1:p.Gly387Arg
XM_011542809.2:c.1159G>C	XP_011541111.1:p.Gly387Arg
XM_011542810.3:c.1159G>C	XP_011541112.1:p.Gly387Arg
NM_000890.5:c.1159G>C MANE Select	NP_000881.3:p.Gly387Arg
NM_001354169.2:c.1159G>C	NP_001341098.1:p.Gly387Arg