Canonical Allele Identifier: CA2008286512
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839452C= , CM000673.2:g.128839452C= GRCh38
NC_000011.9:g.128709347C= , CM000673.1:g.128709347C= GRCh37
NC_000011.8:g.128214557C= NCBI36
NG_009379.1:g.32922G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.792G= MANE Select ENSP00000376434.1:p.Ala264=
ENST00000324036.7:c.792G= ENSP00000316233.3:p.Ala264=
ENST00000392664.2:c.849G= ENSP00000376432.2:p.Ala283=
ENST00000392665.6:c.792G= ENSP00000376433.2:p.Ala264=
ENST00000392666.5:c.792G= ENSP00000376434.1:p.Ala264=
ENST00000440599.6:c.792G= ENSP00000406320.2:p.Ala264=
NM_000220.4:c.849G= NP_000211.1:p.Ala283=
NM_153764.2:c.792G= NP_722448.1:p.Ala264=
NM_153765.2:c.843G= NP_722449.3:p.Ala281=
NM_153766.2:c.792G= NP_722450.1:p.Ala264=
NM_153767.3:c.792G= NP_722451.1:p.Ala264=
NM_000220.6:c.849G= NP_000211.1:p.Ala283=
NM_153764.3:c.792G= NP_722448.1:p.Ala264=
NM_153765.3:c.843G= NP_722449.3:p.Ala281=
NM_153766.3:c.792G= MANE Select NP_722450.1:p.Ala264=
NM_153767.4:c.792G= NP_722451.1:p.Ala264=