Canonical Allele Identifier: CA2008286522
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839456G= , CM000673.2:g.128839456G= GRCh38
NC_000011.9:g.128709351G= , CM000673.1:g.128709351G= GRCh37
NC_000011.8:g.128214561G= NCBI36
NG_009379.1:g.32918C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.788C= MANE Select ENSP00000376434.1:p.Ala263=
ENST00000324036.7:c.788C= ENSP00000316233.3:p.Ala263=
ENST00000392664.2:c.845C= ENSP00000376432.2:p.Ala282=
ENST00000392665.6:c.788C= ENSP00000376433.2:p.Ala263=
ENST00000392666.5:c.788C= ENSP00000376434.1:p.Ala263=
ENST00000440599.6:c.788C= ENSP00000406320.2:p.Ala263=
NM_000220.4:c.845C= NP_000211.1:p.Ala282=
NM_153764.2:c.788C= NP_722448.1:p.Ala263=
NM_153765.2:c.839C= NP_722449.3:p.Ala280=
NM_153766.2:c.788C= NP_722450.1:p.Ala263=
NM_153767.3:c.788C= NP_722451.1:p.Ala263=
NM_000220.6:c.845C= NP_000211.1:p.Ala282=
NM_153764.3:c.788C= NP_722448.1:p.Ala263=
NM_153765.3:c.839C= NP_722449.3:p.Ala280=
NM_153766.3:c.788C= MANE Select NP_722450.1:p.Ala263=
NM_153767.4:c.788C= NP_722451.1:p.Ala263=