Canonical Allele Identifier: CA383250042
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1302912
ClinVar RCV Id: RCV001756411
dbSNP Id: rs2135999533

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128912039G>A , CM000673.2:g.128912039G>A GRCh38
NC_000011.9:g.128781934G>A , CM000673.1:g.128781934G>A GRCh37
NC_000011.8:g.128287144G>A NCBI36
NG_023406.2:g.25622G>A , LRG_333:g.25622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.766G>A MANE Select ENSP00000433295.1:p.Asp256Asn
ENST00000338350.4:c.766G>A ENSP00000339960.4:p.Asp256Asn
ENST00000529694.5:c.766G>A ENSP00000433295.1:p.Asp256Asn
ENST00000533599.1:c.766G>A ENSP00000434266.1:p.Asp256Asn
NM_000890.3:c.766G>A , LRG_333t1:c.766G>A NP_000881.3:p.Asp256Asn
XM_011542809.1:c.766G>A XP_011541111.1:p.Asp256Asn
XM_011542810.1:c.766G>A XP_011541112.1:p.Asp256Asn
NM_000890.4:c.766G>A NP_000881.3:p.Asp256Asn
NM_001354169.1:c.766G>A NP_001341098.1:p.Asp256Asn
XM_011542809.2:c.766G>A XP_011541111.1:p.Asp256Asn
XM_011542810.3:c.766G>A XP_011541112.1:p.Asp256Asn
NM_000890.5:c.766G>A MANE Select NP_000881.3:p.Asp256Asn
NM_001354169.2:c.766G>A NP_001341098.1:p.Asp256Asn