Canonical Allele Identifier: CA673262714

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1360579493
• gnomAD v3: 11-128891756-C-G
• gnomAD v4: 11-128891756-C-G
• MyVariant Identifiers: chr11:g.128761651C>G (hg19) ; chr11:g.128891756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891756C>G , CM000673.2:g.128891756C>G	GRCh38
NC_000011.9:g.128761651C>G , CM000673.1:g.128761651C>G	GRCh37
NC_000011.8:g.128266861C>G	NCBI36
NG_023406.2:g.5339C>G , LRG_333:g.5339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+35C>G MANE Select	ENSP00000433295.1:n.-11+35C>G
ENST00000338350.4:c.-100+35C>G	ENSP00000339960.4:n.-100+35C>G
ENST00000529694.5:c.-11+35C>G	ENSP00000433295.1:n.-11+35C>G
NM_000890.3:c.-11+35C>G , LRG_333t1:c.-11+35C>G	NP_000881.3:n.-11+35C>G
NM_000890.4:c.-11+35C>G	NP_000881.3:n.-11+35C>G
NM_001354169.1:c.-100+35C>G	NP_001341098.1:n.-100+35C>G
NM_000890.5:c.-11+35C>G MANE Select	NP_000881.3:n.-11+35C>G
NM_001354169.2:c.-100+35C>G	NP_001341098.1:n.-100+35C>G