Canonical Allele Identifier: CA128954
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 30125
ClinVar RCV Id: RCV000023035 RCV000122747 RCV000194572
dbSNP Id: rs387906778
COSMIC: COSM1684719
MyVariant Identifiers: chr11:g.128781640A>G (hg19) chr11:g.128911745A>G (hg38)
PubMed: PMID:20301441 PMID:24574546
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911745A>G , CM000673.2:g.128911745A>G GRCh38
NC_000011.9:g.128781640A>G , CM000673.1:g.128781640A>G GRCh37
NC_000011.8:g.128286850A>G NCBI36
NG_023406.2:g.25328A>G , LRG_333:g.25328A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000529694.6:c.472A>G MANE Select ENSP00000433295.1:p.Thr158Ala
ENST00000338350.4:c.472A>G ENSP00000339960.4:p.Thr158Ala
ENST00000529694.5:c.472A>G ENSP00000433295.1:p.Thr158Ala
ENST00000533599.1:c.472A>G ENSP00000434266.1:p.Thr158Ala
NM_000890.3:c.472A>G , LRG_333t1:c.472A>G NP_000881.3:p.Thr158Ala
XM_011542809.1:c.472A>G XP_011541111.1:p.Thr158Ala
XM_011542810.1:c.472A>G XP_011541112.1:p.Thr158Ala
NM_000890.4:c.472A>G NP_000881.3:p.Thr158Ala
NM_001354169.1:c.472A>G NP_001341098.1:p.Thr158Ala
XM_011542809.2:c.472A>G XP_011541111.1:p.Thr158Ala
XM_011542810.3:c.472A>G XP_011541112.1:p.Thr158Ala
NM_000890.5:c.472A>G MANE Select NP_000881.3:p.Thr158Ala
NM_001354169.2:c.472A>G NP_001341098.1:p.Thr158Ala
Search 100 bp 5'
Search 100 bp 3'