Canonical Allele Identifier: CA2008294869

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 2108551
• ClinVar RCV Id: RCV003017677
• dbSNP Id: rs1944586538
• gnomAD v4: 11-128916616-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916622dup , CM000673.2:g.128916622dup	GRCh38
NC_000011.9:g.128786517dup , CM000673.1:g.128786517dup	GRCh37
NC_000011.8:g.128291727dup	NCBI36
NG_023406.2:g.30205dup , LRG_333:g.30205dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.1151dup MANE Select	ENSP00000433295.1:p.Leu385ThrfsTer7
ENST00000338350.4:c.1151dup	ENSP00000339960.4:p.Leu385ThrfsTer7
ENST00000529694.5:c.1151dup	ENSP00000433295.1:p.Leu385ThrfsTer7
ENST00000533599.1:c.1151dup	ENSP00000434266.1:p.Leu385ThrfsTer7
NM_000890.3:c.1151dup , LRG_333t1:c.1151dup	NP_000881.3:p.Leu385ThrfsTer7
XM_011542809.1:c.1151dup	XP_011541111.1:p.Leu385ThrfsTer7
XM_011542810.1:c.1151dup	XP_011541112.1:p.Leu385ThrfsTer7
NM_000890.4:c.1151dup	NP_000881.3:p.Leu385ThrfsTer7
NM_001354169.1:c.1151dup	NP_001341098.1:p.Leu385ThrfsTer7
XM_011542809.2:c.1151dup	XP_011541111.1:p.Leu385ThrfsTer7
XM_011542810.3:c.1151dup	XP_011541112.1:p.Leu385ThrfsTer7
NM_000890.5:c.1151dup MANE Select	NP_000881.3:p.Leu385ThrfsTer7
NM_001354169.2:c.1151dup	NP_001341098.1:p.Leu385ThrfsTer7