Canonical Allele Identifier: CA383251215
Gene: KCNJ5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128912107T>A
GRCh37 chr11:g.128782002T>A
Revel Score:
ENST00000529694 (MANE Select) 0.875
ENST00000338350 0.875
ENST00000533599 0.875
gnomAD v4:
chr11-128912107-T-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar Allele:
1401239
ClinVar RCV:
RCV002022870
ClinVar Variation:
1503522
dbSNP:
7118833
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128912107T>A , CM000673.2:g.128912107T>A GRCh38
NC_000011.9:g.128782002T>A , CM000673.1:g.128782002T>A GRCh37
NC_000011.8:g.128287212T>A NCBI36
NG_023406.2:g.25690T>A , LRG_333:g.25690T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.834T>A MANE Select ENSP00000433295.1:p.His278Gln
ENST00000338350.4:c.834T>A ENSP00000339960.4:p.His278Gln
ENST00000529694.5:c.834T>A ENSP00000433295.1:p.His278Gln
ENST00000533599.1:c.834T>A ENSP00000434266.1:p.His278Gln
NM_000890.3:c.834T>A , LRG_333t1:c.834T>A NP_000881.3:p.His278Gln
XM_011542809.1:c.834T>A XP_011541111.1:p.His278Gln
XM_011542810.1:c.834T>A XP_011541112.1:p.His278Gln
NM_000890.4:c.834T>A NP_000881.3:p.His278Gln
NM_001354169.1:c.834T>A NP_001341098.1:p.His278Gln
XM_011542809.2:c.834T>A XP_011541111.1:p.His278Gln
XM_011542810.3:c.834T>A XP_011541112.1:p.His278Gln
NM_000890.5:c.834T>A MANE Select NP_000881.3:p.His278Gln
NM_001354169.2:c.834T>A NP_001341098.1:p.His278Gln
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