Canonical Allele Identifier: CA1274778610
Gene: RFX8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.101413012C= , CM000664.2:g.101413012C= GRCh38
NC_000002.11:g.102029474C= , CM000664.1:g.102029474C= GRCh37
NC_000002.10:g.101395906C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646893.2:c.960G= ENSP00000494249.2:p.Gln320=
ENST00000428343.6:c.621G= MANE Select ENSP00000401536.1:p.Gln207=
ENST00000646446.1:c.834G= ENSP00000494216.1:p.Gln278=
ENST00000646893.1:c.747G= ENSP00000494249.1:p.Gln249=
ENST00000428343.5:c.621G= ENSP00000401536.1:p.Gln207=
ENST00000481179.5:c.*337G= ENSP00000422968.1:n.*337G=
NM_001145664.1:c.621G= NP_001139136.1:p.Gln207=
XM_011511771.1:c.849G= XP_011510073.1:p.Gln283=
XM_011511772.1:c.834G= XP_011510074.1:p.Gln278=
XM_011511773.1:c.531G= XP_011510075.1:p.Gln177=
XM_011511774.1:c.849G= XP_011510076.1:p.Gln283=
XM_011511775.1:c.849G= XP_011510077.1:p.Gln283=
XM_011511776.1:c.333G= XP_011510078.1:p.Gln111=
XM_011511777.1:c.333G= XP_011510079.1:p.Gln111=
XM_011511778.1:c.333G= XP_011510080.1:p.Gln111=
XM_011511779.1:c.*34G= XP_011510081.1:n.*34G=
XM_011511771.2:c.849G= XP_011510073.1:p.Gln283=
XM_011511777.2:c.333G= XP_011510079.1:p.Gln111=
XM_017004851.1:c.960G= XP_016860340.1:p.Gln320=
XM_017004852.1:c.747G= XP_016860341.1:p.Gln249=
XM_017004853.1:c.960G= XP_016860342.1:p.Gln320=
XM_017004854.1:c.960G= XP_016860343.1:p.Gln320=
XR_001738924.1:n.904G=
NM_001145664.2:c.621G= MANE Select NP_001139136.2:p.Gln207=
NM_001367508.1:c.108G= NP_001354437.1:p.Gln36=
NM_001367509.1:c.108G= NP_001354438.1:p.Gln36=
NM_001367510.1:c.108G= NP_001354439.1:p.Gln36=