Canonical Allele Identifier: CA10637894
Gene: KCNJ5 HGNC NCBI
gnomAD v2:
11:128787430 G / T
gnomAD v3:
11:128917535 G / T
gnomAD v4:
chr11-128917535-G-T
Joint Max Group AF 0.77686496 (AFR)
Genomes Max Group AF 0.77684359 (AFR)
Exomes Max Group AF 0.60381706 (NFE)
ClinVar Allele:
325562
ClinVar RCV:
RCV000296511
RCV000344397
RCV001653487
ClinVar Variation:
303649
dbSNP:
2604204
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128917535G>T , CM000673.2:g.128917535G>T GRCh38
NC_000011.9:g.128787430G>T , CM000673.1:g.128787430G>T GRCh37
NC_000011.8:g.128292640G>T NCBI36
NG_023406.2:g.31118G>T , LRG_333:g.31118G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.*804G>T MANE Select ENSP00000433295.1:n.*804G>T
ENST00000529694.5:c.*804G>T ENSP00000433295.1:n.*804G>T
NM_000890.3:c.*804G>T , LRG_333t1:c.*804G>T NP_000881.3:n.*804G>T
XM_011542809.1:c.*804G>T XP_011541111.1:n.*804G>T
XM_011542810.1:c.*804G>T XP_011541112.1:n.*804G>T
NM_000890.4:c.*804G>T NP_000881.3:n.*804G>T
NM_001354169.1:c.*804G>T NP_001341098.1:n.*804G>T
XM_011542809.2:c.*804G>T XP_011541111.1:n.*804G>T
XM_011542810.3:c.*804G>T XP_011541112.1:n.*804G>T
NM_000890.5:c.*804G>T MANE Select NP_000881.3:n.*804G>T
NM_001354169.2:c.*804G>T NP_001341098.1:n.*804G>T
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