Canonical Allele Identifier: CA2008250746
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839660G= , CM000673.2:g.128839660G= GRCh38
NC_000011.9:g.128709555G= , CM000673.1:g.128709555G= GRCh37
NC_000011.8:g.128214765G= NCBI36
NG_009379.1:g.32714C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.584C= MANE Select ENSP00000376434.1:p.Ala195=
ENST00000324036.7:c.584C= ENSP00000316233.3:p.Ala195=
ENST00000392664.2:c.641C= ENSP00000376432.2:p.Ala214=
ENST00000392665.6:c.584C= ENSP00000376433.2:p.Ala195=
ENST00000392666.5:c.584C= ENSP00000376434.1:p.Ala195=
ENST00000440599.6:c.584C= ENSP00000406320.2:p.Ala195=
NM_000220.4:c.641C= NP_000211.1:p.Ala214=
NM_153764.2:c.584C= NP_722448.1:p.Ala195=
NM_153765.2:c.635C= NP_722449.3:p.Ala212=
NM_153766.2:c.584C= NP_722450.1:p.Ala195=
NM_153767.3:c.584C= NP_722451.1:p.Ala195=
NM_000220.6:c.641C= NP_000211.1:p.Ala214=
NM_153764.3:c.584C= NP_722448.1:p.Ala195=
NM_153765.3:c.635C= NP_722449.3:p.Ala212=
NM_153766.3:c.584C= MANE Select NP_722450.1:p.Ala195=
NM_153767.4:c.584C= NP_722451.1:p.Ala195=