Canonical Allele Identifier: CA53230302
Gene: RFX8 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs12620464

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.101413184T>C , CM000664.2:g.101413184T>C GRCh38
NC_000002.11:g.102029646T>C , CM000664.1:g.102029646T>C GRCh37
NC_000002.10:g.101396078T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001145664.1:c.562-113A>G VV NP_001139136.1:p.=
XM_011511771.1:c.790-113A>G XP_011510073.1:p.=
XM_011511772.1:c.775-113A>G XP_011510074.1:p.=
XM_011511773.1:c.472-113A>G XP_011510075.1:p.=
XM_011511774.1:c.790-113A>G XP_011510076.1:p.=
XM_011511775.1:c.790-113A>G XP_011510077.1:p.=
XM_011511776.1:c.274-113A>G XP_011510078.1:p.=
XM_011511777.1:c.274-113A>G XP_011510079.1:p.=
XM_011511778.1:c.274-113A>G XP_011510080.1:p.=
XM_011511779.1:c.731-113A>G XP_011510081.1:p.=
XM_011511771.2:c.790-113A>G
XM_011511777.2:c.274-113A>G
XM_017004851.1:c.901-113A>G XP_016860340.1:p.=
XM_017004852.1:c.688-113A>G XP_016860341.1:p.=
XM_017004853.1:c.901-113A>G XP_016860342.1:p.=
XM_017004854.1:c.901-113A>G XP_016860343.1:p.=
XR_001738924.1:n.845-113A>G
NM_001145664.2:c.562-113A>G VV MANE Preferred NP_001139136.2:p.=
NM_001367508.1:c.49-113A>G VV NP_001354437.1:p.=
NM_001367509.1:c.49-113A>G VV NP_001354438.1:p.=
NM_001367510.1:c.49-113A>G VV NP_001354439.1:p.=
ENST00000428343.5:c.562-113A>G ENSP00000401536.1:p.=
ENST00000481179.5:c.*278-113A>G ENSP00000422968.1:p.=