Canonical Allele Identifier: CA16613481

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 412766
• ClinVar RCV Id: RCV001495213
• dbSNP Id: rs1060503834

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128912116_128912117delinsTG , CM000673.2:g.128912116_128912117delinsTG	GRCh38
NC_000011.9:g.128782011_128782012delinsTG , CM000673.1:g.128782011_128782012delinsTG	GRCh37
NC_000011.8:g.128287221_128287222delinsTG	NCBI36
NG_023406.2:g.25699_25700delinsTG , LRG_333:g.25699_25700delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.843_844delinsTG MANE Select	ENSP00000433295.1:p.Gln282Glu
ENST00000338350.4:c.843_844delinsTG	ENSP00000339960.4:p.Gln282Glu
ENST00000529694.5:c.843_844delinsTG	ENSP00000433295.1:p.Gln282Glu
ENST00000533599.1:c.843_844delinsTG	ENSP00000434266.1:p.Gln282Glu
NM_000890.3:c.843_844delinsTG , LRG_333t1:c.843_844delinsTG	NP_000881.3:p.Gln282Glu
XM_011542809.1:c.843_844delinsTG	XP_011541111.1:p.Gln282Glu
XM_011542810.1:c.843_844delinsTG	XP_011541112.1:p.Gln282Glu
NM_000890.4:c.843_844delinsTG	NP_000881.3:p.Gln282Glu
NM_001354169.1:c.843_844delinsTG	NP_001341098.1:p.Gln282Glu
XM_011542809.2:c.843_844delinsTG	XP_011541111.1:p.Gln282Glu
XM_011542810.3:c.843_844delinsTG	XP_011541112.1:p.Gln282Glu
NM_000890.5:c.843_844delinsTG MANE Select	NP_000881.3:p.Gln282Glu
NM_001354169.2:c.843_844delinsTG	NP_001341098.1:p.Gln282Glu