Canonical Allele Identifier: CA602374519

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1345999324
• gnomAD v2: 11-128761643-T-G
• gnomAD v3: 11-128891748-T-G
• gnomAD v4: 11-128891748-T-G
• MyVariant Identifiers: chr11:g.128761643T>G (hg19) ; chr11:g.128891748T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891748T>G , CM000673.2:g.128891748T>G	GRCh38
NC_000011.9:g.128761643T>G , CM000673.1:g.128761643T>G	GRCh37
NC_000011.8:g.128266853T>G	NCBI36
NG_023406.2:g.5331T>G , LRG_333:g.5331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+27T>G MANE Select	ENSP00000433295.1:n.-11+27T>G
ENST00000338350.4:c.-100+27T>G	ENSP00000339960.4:n.-100+27T>G
ENST00000529694.5:c.-11+27T>G	ENSP00000433295.1:n.-11+27T>G
NM_000890.3:c.-11+27T>G , LRG_333t1:c.-11+27T>G	NP_000881.3:n.-11+27T>G
NM_000890.4:c.-11+27T>G	NP_000881.3:n.-11+27T>G
NM_001354169.1:c.-100+27T>G	NP_001341098.1:n.-100+27T>G
NM_000890.5:c.-11+27T>G MANE Select	NP_000881.3:n.-11+27T>G
NM_001354169.2:c.-100+27T>G	NP_001341098.1:n.-100+27T>G