Canonical Allele Identifier: CA6357870

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 303628
• ClinVar RCV Id: RCV000267619 ; RCV001062268 ; RCV000357625 ; RCV002328803 ; RCV002470842 ; RCV003133217
• dbSNP Id: rs369703183
• ExAC: 11:128781598 A / G
• gnomAD v2: 11-128781598-A-G
• gnomAD v3: 11-128911703-A-G
• gnomAD v4: 11-128911703-A-G
• MyVariant Identifiers: chr11:g.128781598A>G (hg19) ; chr11:g.128911703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128911703A>G , CM000673.2:g.128911703A>G	GRCh38
NC_000011.9:g.128781598A>G , CM000673.1:g.128781598A>G	GRCh37
NC_000011.8:g.128286808A>G	NCBI36
NG_023406.2:g.25286A>G , LRG_333:g.25286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.430A>G MANE Select	ENSP00000433295.1:p.Ile144Val
ENST00000338350.4:c.430A>G	ENSP00000339960.4:p.Ile144Val
ENST00000529694.5:c.430A>G	ENSP00000433295.1:p.Ile144Val
ENST00000533599.1:c.430A>G	ENSP00000434266.1:p.Ile144Val
NM_000890.3:c.430A>G , LRG_333t1:c.430A>G	NP_000881.3:p.Ile144Val
XM_011542809.1:c.430A>G	XP_011541111.1:p.Ile144Val
XM_011542810.1:c.430A>G	XP_011541112.1:p.Ile144Val
NM_000890.4:c.430A>G	NP_000881.3:p.Ile144Val
NM_001354169.1:c.430A>G	NP_001341098.1:p.Ile144Val
XM_011542809.2:c.430A>G	XP_011541111.1:p.Ile144Val
XM_011542810.3:c.430A>G	XP_011541112.1:p.Ile144Val
NM_000890.5:c.430A>G MANE Select	NP_000881.3:p.Ile144Val
NM_001354169.2:c.430A>G	NP_001341098.1:p.Ile144Val