Canonical Allele Identifier: CA943430883

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 1690880
• ClinVar RCV Id: RCV002252472
• dbSNP Id: rs1944587149
• gnomAD v3: 11-128916628-T-TG
• gnomAD v4: 11-128916628-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916634dup , CM000673.2:g.128916634dup	GRCh38
NC_000011.9:g.128786529dup , CM000673.1:g.128786529dup	GRCh37
NC_000011.8:g.128291739dup	NCBI36
NG_023406.2:g.30217dup , LRG_333:g.30217dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.1163dup MANE Select	ENSP00000433295.1:p.Cys389LeufsTer3
ENST00000338350.4:c.1163dup	ENSP00000339960.4:p.Cys389LeufsTer3
ENST00000529694.5:c.1163dup	ENSP00000433295.1:p.Cys389LeufsTer3
ENST00000533599.1:c.1163dup	ENSP00000434266.1:p.Cys389LeufsTer3
NM_000890.3:c.1163dup , LRG_333t1:c.1163dup	NP_000881.3:p.Cys389LeufsTer3
XM_011542809.1:c.1163dup	XP_011541111.1:p.Cys389LeufsTer3
XM_011542810.1:c.1163dup	XP_011541112.1:p.Cys389LeufsTer3
NM_000890.4:c.1163dup	NP_000881.3:p.Cys389LeufsTer3
NM_001354169.1:c.1163dup	NP_001341098.1:p.Cys389LeufsTer3
XM_011542809.2:c.1163dup	XP_011541111.1:p.Cys389LeufsTer3
XM_011542810.3:c.1163dup	XP_011541112.1:p.Cys389LeufsTer3
NM_000890.5:c.1163dup MANE Select	NP_000881.3:p.Cys389LeufsTer3
NM_001354169.2:c.1163dup	NP_001341098.1:p.Cys389LeufsTer3