Canonical Allele Identifier: CA1274778631
Gene: RFX8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.101413065G= , CM000664.2:g.101413065G= GRCh38
NC_000002.11:g.102029527G= , CM000664.1:g.102029527G= GRCh37
NC_000002.10:g.101395959G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646893.2:c.907C= ENSP00000494249.2:p.Arg303=
ENST00000428343.6:c.568C= MANE Select ENSP00000401536.1:p.Arg190=
ENST00000646446.1:c.781C= ENSP00000494216.1:p.Arg261=
ENST00000646893.1:c.694C= ENSP00000494249.1:p.Arg232=
ENST00000428343.5:c.568C= ENSP00000401536.1:p.Arg190=
ENST00000481179.5:c.*284C= ENSP00000422968.1:n.*284C=
NM_001145664.1:c.568C= NP_001139136.1:p.Arg190=
XM_011511771.1:c.796C= XP_011510073.1:p.Arg266=
XM_011511772.1:c.781C= XP_011510074.1:p.Arg261=
XM_011511773.1:c.478C= XP_011510075.1:p.Arg160=
XM_011511774.1:c.796C= XP_011510076.1:p.Arg266=
XM_011511775.1:c.796C= XP_011510077.1:p.Arg266=
XM_011511776.1:c.280C= XP_011510078.1:p.Arg94=
XM_011511777.1:c.280C= XP_011510079.1:p.Arg94=
XM_011511778.1:c.280C= XP_011510080.1:p.Arg94=
XM_011511779.1:c.737C= XP_011510081.1:p.Ala246=
XM_011511771.2:c.796C= XP_011510073.1:p.Arg266=
XM_011511777.2:c.280C= XP_011510079.1:p.Arg94=
XM_017004851.1:c.907C= XP_016860340.1:p.Arg303=
XM_017004852.1:c.694C= XP_016860341.1:p.Arg232=
XM_017004853.1:c.907C= XP_016860342.1:p.Arg303=
XM_017004854.1:c.907C= XP_016860343.1:p.Arg303=
XR_001738924.1:n.851C=
NM_001145664.2:c.568C= MANE Select NP_001139136.2:p.Arg190=
NM_001367508.1:c.55C= NP_001354437.1:p.Arg19=
NM_001367509.1:c.55C= NP_001354438.1:p.Arg19=
NM_001367510.1:c.55C= NP_001354439.1:p.Arg19=