Canonical Allele Identifier: CA347974436
Gene: RFX8 HGNC NCBI

Linked Data

dbSNP Id: rs758519979

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.101412998T>G , CM000664.2:g.101412998T>G GRCh38
NC_000002.11:g.102029460T>G , CM000664.1:g.102029460T>G GRCh37
NC_000002.10:g.101395892T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646893.2:c.974A>C ENSP00000494249.2:p.Gln325Pro
ENST00000428343.6:c.635A>C MANE Select ENSP00000401536.1:p.Gln212Pro
ENST00000646446.1:c.848A>C ENSP00000494216.1:p.Gln283Pro
ENST00000646893.1:c.761A>C ENSP00000494249.1:p.Gln254Pro
ENST00000428343.5:c.635A>C ENSP00000401536.1:p.Gln212Pro
ENST00000481179.5:c.*351A>C ENSP00000422968.1:n.*351A>C
NM_001145664.1:c.635A>C NP_001139136.1:p.Gln212Pro
XM_011511771.1:c.863A>C XP_011510073.1:p.Gln288Pro
XM_011511772.1:c.848A>C XP_011510074.1:p.Gln283Pro
XM_011511773.1:c.545A>C XP_011510075.1:p.Gln182Pro
XM_011511774.1:c.863A>C XP_011510076.1:p.Gln288Pro
XM_011511775.1:c.863A>C XP_011510077.1:p.Gln288Pro
XM_011511776.1:c.347A>C XP_011510078.1:p.Gln116Pro
XM_011511777.1:c.347A>C XP_011510079.1:p.Gln116Pro
XM_011511778.1:c.347A>C XP_011510080.1:p.Gln116Pro
XM_011511779.1:c.*48A>C XP_011510081.1:n.*48A>C
XM_011511771.2:c.863A>C XP_011510073.1:p.Gln288Pro
XM_011511777.2:c.347A>C XP_011510079.1:p.Gln116Pro
XM_017004851.1:c.974A>C XP_016860340.1:p.Gln325Pro
XM_017004852.1:c.761A>C XP_016860341.1:p.Gln254Pro
XM_017004853.1:c.974A>C XP_016860342.1:p.Gln325Pro
XM_017004854.1:c.974A>C XP_016860343.1:p.Gln325Pro
XR_001738924.1:n.918A>C
NM_001145664.2:c.635A>C MANE Select NP_001139136.2:p.Gln212Pro
NM_001367508.1:c.122A>C NP_001354437.1:p.Gln41Pro
NM_001367509.1:c.122A>C NP_001354438.1:p.Gln41Pro
NM_001367510.1:c.122A>C NP_001354439.1:p.Gln41Pro