Canonical Allele Identifier: CA6358010

Gene: KCNJ5

Linked Data

• dbSNP Id: rs764499695
• ExAC: 11:128786528 G / T
• gnomAD v2: 11-128786528-G-T
• gnomAD v4: 11-128916633-G-T
• MyVariant Identifiers: chr11:g.128786528G>T (hg19) ; chr11:g.128916633G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916633G>T , CM000673.2:g.128916633G>T	GRCh38
NC_000011.9:g.128786528G>T , CM000673.1:g.128786528G>T	GRCh37
NC_000011.8:g.128291738G>T	NCBI36
NG_023406.2:g.30216G>T , LRG_333:g.30216G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.1162G>T MANE Select	ENSP00000433295.1:p.Gly388Cys
ENST00000338350.4:c.1162G>T	ENSP00000339960.4:p.Gly388Cys
ENST00000529694.5:c.1162G>T	ENSP00000433295.1:p.Gly388Cys
ENST00000533599.1:c.1162G>T	ENSP00000434266.1:p.Gly388Cys
NM_000890.3:c.1162G>T , LRG_333t1:c.1162G>T	NP_000881.3:p.Gly388Cys
XM_011542809.1:c.1162G>T	XP_011541111.1:p.Gly388Cys
XM_011542810.1:c.1162G>T	XP_011541112.1:p.Gly388Cys
NM_000890.4:c.1162G>T	NP_000881.3:p.Gly388Cys
NM_001354169.1:c.1162G>T	NP_001341098.1:p.Gly388Cys
XM_011542809.2:c.1162G>T	XP_011541111.1:p.Gly388Cys
XM_011542810.3:c.1162G>T	XP_011541112.1:p.Gly388Cys
NM_000890.5:c.1162G>T MANE Select	NP_000881.3:p.Gly388Cys
NM_001354169.2:c.1162G>T	NP_001341098.1:p.Gly388Cys