Canonical Allele Identifier: CA943482761

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1944091128
• gnomAD v3: 11-128891503-A-G
• gnomAD v4: 11-128891503-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891503A>G , CM000673.2:g.128891503A>G	GRCh38
NC_000011.9:g.128761398A>G , CM000673.1:g.128761398A>G	GRCh37
NC_000011.8:g.128266608A>G	NCBI36
NG_023406.2:g.5086A>G , LRG_333:g.5086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-229A>G MANE Select	ENSP00000433295.1:n.-229A>G
ENST00000338350.4:c.-318A>G	ENSP00000339960.4:n.-318A>G
ENST00000529694.5:c.-229A>G	ENSP00000433295.1:n.-229A>G
NM_000890.3:c.-229A>G , LRG_333t1:c.-229A>G	NP_000881.3:n.-229A>G
NM_000890.4:c.-229A>G	NP_000881.3:n.-229A>G
NM_001354169.1:c.-318A>G	NP_001341098.1:n.-318A>G
NM_000890.5:c.-229A>G MANE Select	NP_000881.3:n.-229A>G
NM_001354169.2:c.-318A>G	NP_001341098.1:n.-318A>G