Canonical Allele Identifier: CA383244188
Gene: KCNJ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839527T>G , CM000673.2:g.128839527T>G GRCh38
NC_000011.9:g.128709422T>G , CM000673.1:g.128709422T>G GRCh37
NC_000011.8:g.128214632T>G NCBI36
NG_009379.1:g.32847A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.717A>C MANE Select ENSP00000376434.1:p.Glu239Asp
ENST00000324036.7:c.717A>C ENSP00000316233.3:p.Glu239Asp
ENST00000392664.2:c.774A>C ENSP00000376432.2:p.Glu258Asp
ENST00000392665.6:c.717A>C ENSP00000376433.2:p.Glu239Asp
ENST00000392666.5:c.717A>C ENSP00000376434.1:p.Glu239Asp
ENST00000440599.6:c.717A>C ENSP00000406320.2:p.Glu239Asp
NM_000220.4:c.774A>C NP_000211.1:p.Glu258Asp
NM_153764.2:c.717A>C NP_722448.1:p.Glu239Asp
NM_153765.2:c.768A>C NP_722449.3:p.Glu256Asp
NM_153766.2:c.717A>C NP_722450.1:p.Glu239Asp
NM_153767.3:c.717A>C NP_722451.1:p.Glu239Asp
NM_000220.6:c.774A>C NP_000211.1:p.Glu258Asp
NM_153764.3:c.717A>C NP_722448.1:p.Glu239Asp
NM_153765.3:c.768A>C NP_722449.3:p.Glu256Asp
NM_153766.3:c.717A>C MANE Select NP_722450.1:p.Glu239Asp
NM_153767.4:c.717A>C NP_722451.1:p.Glu239Asp