Canonical Allele Identifier: CA6357439
Gene: KCNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1053514
ClinVar RCV Id: RCV001361871
dbSNP Id: rs747718912

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839384G>A , CM000673.2:g.128839384G>A GRCh38
NC_000011.9:g.128709279G>A , CM000673.1:g.128709279G>A GRCh37
NC_000011.8:g.128214489G>A NCBI36
NG_009379.1:g.32990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.860C>T MANE Select ENSP00000376434.1:p.Ala287Val
ENST00000324036.7:c.860C>T ENSP00000316233.3:p.Ala287Val
ENST00000392664.2:c.917C>T ENSP00000376432.2:p.Ala306Val
ENST00000392665.6:c.860C>T ENSP00000376433.2:p.Ala287Val
ENST00000392666.5:c.860C>T ENSP00000376434.1:p.Ala287Val
ENST00000440599.6:c.860C>T ENSP00000406320.2:p.Ala287Val
NM_000220.4:c.917C>T NP_000211.1:p.Ala306Val
NM_153764.2:c.860C>T NP_722448.1:p.Ala287Val
NM_153765.2:c.911C>T NP_722449.3:p.Ala304Val
NM_153766.2:c.860C>T NP_722450.1:p.Ala287Val
NM_153767.3:c.860C>T NP_722451.1:p.Ala287Val
NM_000220.6:c.917C>T NP_000211.1:p.Ala306Val
NM_153764.3:c.860C>T NP_722448.1:p.Ala287Val
NM_153765.3:c.911C>T NP_722449.3:p.Ala304Val
NM_153766.3:c.860C>T MANE Select NP_722450.1:p.Ala287Val
NM_153767.4:c.860C>T NP_722451.1:p.Ala287Val