Canonical Allele Identifier: CA347974429

Gene: RFX8

Linked Data

• dbSNP Id: rs1365210148
• gnomAD v4: 2-101412995-C-T
• MyVariant Identifiers: chr2:g.102029457C>T (hg19) ; chr2:g.101412995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412995C>T , CM000664.2:g.101412995C>T	GRCh38
NC_000002.11:g.102029457C>T , CM000664.1:g.102029457C>T	GRCh37
NC_000002.10:g.101395889C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.977G>A	ENSP00000494249.2:p.Gly326Asp
ENST00000428343.6:c.638G>A MANE Select	ENSP00000401536.1:p.Gly213Asp
ENST00000646446.1:c.851G>A	ENSP00000494216.1:p.Gly284Asp
ENST00000646893.1:c.764G>A	ENSP00000494249.1:p.Gly255Asp
ENST00000428343.5:c.638G>A	ENSP00000401536.1:p.Gly213Asp
ENST00000481179.5:c.*354G>A	ENSP00000422968.1:n.*354G>A
NM_001145664.1:c.638G>A	NP_001139136.1:p.Gly213Asp
XM_011511771.1:c.866G>A	XP_011510073.1:p.Gly289Asp
XM_011511772.1:c.851G>A	XP_011510074.1:p.Gly284Asp
XM_011511773.1:c.548G>A	XP_011510075.1:p.Gly183Asp
XM_011511774.1:c.866G>A	XP_011510076.1:p.Gly289Asp
XM_011511775.1:c.866G>A	XP_011510077.1:p.Gly289Asp
XM_011511776.1:c.350G>A	XP_011510078.1:p.Gly117Asp
XM_011511777.1:c.350G>A	XP_011510079.1:p.Gly117Asp
XM_011511778.1:c.350G>A	XP_011510080.1:p.Gly117Asp
XM_011511779.1:c.*51G>A	XP_011510081.1:n.*51G>A
XM_011511771.2:c.866G>A	XP_011510073.1:p.Gly289Asp
XM_011511777.2:c.350G>A	XP_011510079.1:p.Gly117Asp
XM_017004851.1:c.977G>A	XP_016860340.1:p.Gly326Asp
XM_017004852.1:c.764G>A	XP_016860341.1:p.Gly255Asp
XM_017004853.1:c.977G>A	XP_016860342.1:p.Gly326Asp
XM_017004854.1:c.977G>A	XP_016860343.1:p.Gly326Asp
XR_001738924.1:n.921G>A
NM_001145664.2:c.638G>A MANE Select	NP_001139136.2:p.Gly213Asp
NM_001367508.1:c.125G>A	NP_001354437.1:p.Gly42Asp
NM_001367509.1:c.125G>A	NP_001354438.1:p.Gly42Asp
NM_001367510.1:c.125G>A	NP_001354439.1:p.Gly42Asp