Canonical Allele Identifier: CA2008250654
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839638A= , CM000673.2:g.128839638A= GRCh38
NC_000011.9:g.128709533A= , CM000673.1:g.128709533A= GRCh37
NC_000011.8:g.128214743A= NCBI36
NG_009379.1:g.32736T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.606T= MANE Select ENSP00000376434.1:p.Leu202=
ENST00000324036.7:c.606T= ENSP00000316233.3:p.Leu202=
ENST00000392664.2:c.663T= ENSP00000376432.2:p.Leu221=
ENST00000392665.6:c.606T= ENSP00000376433.2:p.Leu202=
ENST00000392666.5:c.606T= ENSP00000376434.1:p.Leu202=
ENST00000440599.6:c.606T= ENSP00000406320.2:p.Leu202=
NM_000220.4:c.663T= NP_000211.1:p.Leu221=
NM_153764.2:c.606T= NP_722448.1:p.Leu202=
NM_153765.2:c.657T= NP_722449.3:p.Leu219=
NM_153766.2:c.606T= NP_722450.1:p.Leu202=
NM_153767.3:c.606T= NP_722451.1:p.Leu202=
NM_000220.6:c.663T= NP_000211.1:p.Leu221=
NM_153764.3:c.606T= NP_722448.1:p.Leu202=
NM_153765.3:c.657T= NP_722449.3:p.Leu219=
NM_153766.3:c.606T= MANE Select NP_722450.1:p.Leu202=
NM_153767.4:c.606T= NP_722451.1:p.Leu202=