Canonical Allele Identifier: CA2008286570
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839488G= , CM000673.2:g.128839488G= GRCh38
NC_000011.9:g.128709383G= , CM000673.1:g.128709383G= GRCh37
NC_000011.8:g.128214593G= NCBI36
NG_009379.1:g.32886C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.756C= MANE Select ENSP00000376434.1:p.Val252=
ENST00000324036.7:c.756C= ENSP00000316233.3:p.Val252=
ENST00000392664.2:c.813C= ENSP00000376432.2:p.Val271=
ENST00000392665.6:c.756C= ENSP00000376433.2:p.Val252=
ENST00000392666.5:c.756C= ENSP00000376434.1:p.Val252=
ENST00000440599.6:c.756C= ENSP00000406320.2:p.Val252=
NM_000220.4:c.813C= NP_000211.1:p.Val271=
NM_153764.2:c.756C= NP_722448.1:p.Val252=
NM_153765.2:c.807C= NP_722449.3:p.Val269=
NM_153766.2:c.756C= NP_722450.1:p.Val252=
NM_153767.3:c.756C= NP_722451.1:p.Val252=
NM_000220.6:c.813C= NP_000211.1:p.Val271=
NM_153764.3:c.756C= NP_722448.1:p.Val252=
NM_153765.3:c.807C= NP_722449.3:p.Val269=
NM_153766.3:c.756C= MANE Select NP_722450.1:p.Val252=
NM_153767.4:c.756C= NP_722451.1:p.Val252=