Canonical Allele Identifier: CA2008286708
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839569C= , CM000673.2:g.128839569C= GRCh38
NC_000011.9:g.128709464C= , CM000673.1:g.128709464C= GRCh37
NC_000011.8:g.128214674C= NCBI36
NG_009379.1:g.32805G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.675G= MANE Select ENSP00000376434.1:p.Leu225=
ENST00000324036.7:c.675G= ENSP00000316233.3:p.Leu225=
ENST00000392664.2:c.732G= ENSP00000376432.2:p.Leu244=
ENST00000392665.6:c.675G= ENSP00000376433.2:p.Leu225=
ENST00000392666.5:c.675G= ENSP00000376434.1:p.Leu225=
ENST00000440599.6:c.675G= ENSP00000406320.2:p.Leu225=
NM_000220.4:c.732G= NP_000211.1:p.Leu244=
NM_153764.2:c.675G= NP_722448.1:p.Leu225=
NM_153765.2:c.726G= NP_722449.3:p.Leu242=
NM_153766.2:c.675G= NP_722450.1:p.Leu225=
NM_153767.3:c.675G= NP_722451.1:p.Leu225=
NM_000220.6:c.732G= NP_000211.1:p.Leu244=
NM_153764.3:c.675G= NP_722448.1:p.Leu225=
NM_153765.3:c.726G= NP_722449.3:p.Leu242=
NM_153766.3:c.675G= MANE Select NP_722450.1:p.Leu225=
NM_153767.4:c.675G= NP_722451.1:p.Leu225=