Canonical Allele Identifier: CA302085
Gene: KCNJ5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128911406G>A
GRCh37 chr11:g.128781301G>A
Revel Score:
ENST00000533356 0.385
ENST00000529694 (MANE Select) 0.385
ENST00000338350 0.385
ENST00000533599 0.385
gnomAD v2:
11:128781301 G / A
gnomAD v3:
11:128911406 G / A
gnomAD v4:
chr11-128911406-G-A
Joint Max Group AF 0.00010232 (AFR)
Genomes Max Group AF 0.00013003 (AFR)
Exomes Max Group AF 0.00006246 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911406G>A , CM000673.2:g.128911406G>A GRCh38
NC_000011.9:g.128781301G>A , CM000673.1:g.128781301G>A GRCh37
NC_000011.8:g.128286511G>A NCBI36
NG_023406.2:g.24989G>A , LRG_333:g.24989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.133G>A MANE Select ENSP00000433295.1:p.Glu45Lys
ENST00000338350.4:c.133G>A ENSP00000339960.4:p.Glu45Lys
ENST00000529694.5:c.133G>A ENSP00000433295.1:p.Glu45Lys
ENST00000533599.1:c.133G>A ENSP00000434266.1:p.Glu45Lys
NM_000890.3:c.133G>A , LRG_333t1:c.133G>A NP_000881.3:p.Glu45Lys
XM_011542809.1:c.133G>A XP_011541111.1:p.Glu45Lys
XM_011542810.1:c.133G>A XP_011541112.1:p.Glu45Lys
NM_000890.4:c.133G>A NP_000881.3:p.Glu45Lys
NM_001354169.1:c.133G>A NP_001341098.1:p.Glu45Lys
XM_011542809.2:c.133G>A XP_011541111.1:p.Glu45Lys
XM_011542810.3:c.133G>A XP_011541112.1:p.Glu45Lys
NM_000890.5:c.133G>A MANE Select NP_000881.3:p.Glu45Lys
NM_001354169.2:c.133G>A NP_001341098.1:p.Glu45Lys
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