Canonical Allele Identifier: CA13402585
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183781
ClinVar RCV Id: RCV001541701
dbSNP Id: rs7941582
gnomAD v2: 11-128761675-G-A
gnomAD v3: 11-128891780-G-A
gnomAD v4: 11-128891780-G-A
MyVariant Identifiers: chr11:g.128761675G>A (hg19) chr11:g.128891780G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891780G>A , CM000673.2:g.128891780G>A GRCh38
NC_000011.9:g.128761675G>A , CM000673.1:g.128761675G>A GRCh37
NC_000011.8:g.128266885G>A NCBI36
NG_023406.2:g.5363G>A , LRG_333:g.5363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-11+59G>A MANE Select ENSP00000433295.1:n.-11+59G>A
ENST00000338350.4:c.-100+59G>A ENSP00000339960.4:n.-100+59G>A
ENST00000529694.5:c.-11+59G>A ENSP00000433295.1:n.-11+59G>A
NM_000890.3:c.-11+59G>A , LRG_333t1:c.-11+59G>A NP_000881.3:n.-11+59G>A
NM_000890.4:c.-11+59G>A NP_000881.3:n.-11+59G>A
NM_001354169.1:c.-100+59G>A NP_001341098.1:n.-100+59G>A
NM_000890.5:c.-11+59G>A MANE Select NP_000881.3:n.-11+59G>A
NM_001354169.2:c.-100+59G>A NP_001341098.1:n.-100+59G>A
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