Canonical Allele Identifier: CA2008286083
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839161C= , CM000673.2:g.128839161C= GRCh38
NC_000011.9:g.128709056C= , CM000673.1:g.128709056C= GRCh37
NC_000011.8:g.128214266C= NCBI36
NG_009379.1:g.33213G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.1083G= MANE Select ENSP00000376434.1:p.Leu361=
ENST00000324036.7:c.1083G= ENSP00000316233.3:p.Leu361=
ENST00000392664.2:c.1140G= ENSP00000376432.2:p.Leu380=
ENST00000392665.6:c.1083G= ENSP00000376433.2:p.Leu361=
ENST00000392666.5:c.1083G= ENSP00000376434.1:p.Leu361=
ENST00000440599.6:c.1083G= ENSP00000406320.2:p.Leu361=
NM_000220.4:c.1140G= NP_000211.1:p.Leu380=
NM_153764.2:c.1083G= NP_722448.1:p.Leu361=
NM_153765.2:c.1134G= NP_722449.3:p.Leu378=
NM_153766.2:c.1083G= NP_722450.1:p.Leu361=
NM_153767.3:c.1083G= NP_722451.1:p.Leu361=
NM_000220.6:c.1140G= NP_000211.1:p.Leu380=
NM_153764.3:c.1083G= NP_722448.1:p.Leu361=
NM_153765.3:c.1134G= NP_722449.3:p.Leu378=
NM_153766.3:c.1083G= MANE Select NP_722450.1:p.Leu361=
NM_153767.4:c.1083G= NP_722451.1:p.Leu361=