Canonical Allele Identifier: CA232429
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 135677
dbSNP Id: rs200170681

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