Canonical Allele Identifier: CA2008253062
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs1944094997
gnomAD v4: 11-128891722-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891722G>T , CM000673.2:g.128891722G>T GRCh38
NC_000011.9:g.128761617G>T , CM000673.1:g.128761617G>T GRCh37
NC_000011.8:g.128266827G>T NCBI36
NG_023406.2:g.5305G>T , LRG_333:g.5305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-11+1G>T MANE Select ENSP00000433295.1:n.-11+1G>T
ENST00000338350.4:c.-100+1G>T ENSP00000339960.4:n.-100+1G>T
ENST00000529694.5:c.-11+1G>T ENSP00000433295.1:n.-11+1G>T
NM_000890.3:c.-11+1G>T , LRG_333t1:c.-11+1G>T NP_000881.3:n.-11+1G>T
NM_000890.4:c.-11+1G>T NP_000881.3:n.-11+1G>T
NM_001354169.1:c.-100+1G>T NP_001341098.1:n.-100+1G>T
NM_000890.5:c.-11+1G>T MANE Select NP_000881.3:n.-11+1G>T
NM_001354169.2:c.-100+1G>T NP_001341098.1:n.-100+1G>T
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