Canonical Allele Identifier: CA347974511

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029495G>T (hg19) ; chr2:g.101413033G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413033G>T , CM000664.2:g.101413033G>T	GRCh38
NC_000002.11:g.102029495G>T , CM000664.1:g.102029495G>T	GRCh37
NC_000002.10:g.101395927G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.939C>A	ENSP00000494249.2:p.Ser313Arg
ENST00000428343.6:c.600C>A MANE Select	ENSP00000401536.1:p.Ser200Arg
ENST00000646446.1:c.813C>A	ENSP00000494216.1:p.Ser271Arg
ENST00000646893.1:c.726C>A	ENSP00000494249.1:p.Ser242Arg
ENST00000428343.5:c.600C>A	ENSP00000401536.1:p.Ser200Arg
ENST00000481179.5:c.*316C>A	ENSP00000422968.1:n.*316C>A
NM_001145664.1:c.600C>A	NP_001139136.1:p.Ser200Arg
XM_011511771.1:c.828C>A	XP_011510073.1:p.Ser276Arg
XM_011511772.1:c.813C>A	XP_011510074.1:p.Ser271Arg
XM_011511773.1:c.510C>A	XP_011510075.1:p.Ser170Arg
XM_011511774.1:c.828C>A	XP_011510076.1:p.Ser276Arg
XM_011511775.1:c.828C>A	XP_011510077.1:p.Ser276Arg
XM_011511776.1:c.312C>A	XP_011510078.1:p.Ser104Arg
XM_011511777.1:c.312C>A	XP_011510079.1:p.Ser104Arg
XM_011511778.1:c.312C>A	XP_011510080.1:p.Ser104Arg
XM_011511779.1:c.*13C>A	XP_011510081.1:n.*13C>A
XM_011511771.2:c.828C>A	XP_011510073.1:p.Ser276Arg
XM_011511777.2:c.312C>A	XP_011510079.1:p.Ser104Arg
XM_017004851.1:c.939C>A	XP_016860340.1:p.Ser313Arg
XM_017004852.1:c.726C>A	XP_016860341.1:p.Ser242Arg
XM_017004853.1:c.939C>A	XP_016860342.1:p.Ser313Arg
XM_017004854.1:c.939C>A	XP_016860343.1:p.Ser313Arg
XR_001738924.1:n.883C>A
NM_001145664.2:c.600C>A MANE Select	NP_001139136.2:p.Ser200Arg
NM_001367508.1:c.87C>A	NP_001354437.1:p.Ser29Arg
NM_001367509.1:c.87C>A	NP_001354438.1:p.Ser29Arg
NM_001367510.1:c.87C>A	NP_001354439.1:p.Ser29Arg