Canonical Allele Identifier: CA347974421

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412992G>C , CM000664.2:g.101412992G>C	GRCh38
NC_000002.11:g.102029454G>C , CM000664.1:g.102029454G>C	GRCh37
NC_000002.10:g.101395886G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145664.2:c.641C>G MANE Select	NP_001139136.2:p.Thr214Ser
ENST00000428343.6:c.641C>G MANE Select	ENSP00000401536.1:p.Thr214Ser
NM_001145664.1:c.641C>G	NP_001139136.1:p.Thr214Ser
NM_001367508.1:c.128C>G	NP_001354437.1:p.Thr43Ser
NM_001367509.1:c.128C>G	NP_001354438.1:p.Thr43Ser
NM_001367510.1:c.128C>G	NP_001354439.1:p.Thr43Ser
ENST00000428343.5:c.641C>G	ENSP00000401536.1:p.Thr214Ser
ENST00000481179.5:c.*357C>G	ENSP00000422968.1:n.*357C>G
ENST00000646446.1:c.854C>G	ENSP00000494216.1:p.Thr285Ser
ENST00000646893.1:c.767C>G	ENSP00000494249.1:p.Thr256Ser
ENST00000646893.2:c.980C>G	ENSP00000494249.2:p.Thr327Ser
XM_011511771.1:c.869C>G	XP_011510073.1:p.Thr290Ser
XM_011511771.2:c.869C>G	XP_011510073.1:p.Thr290Ser
XM_011511772.1:c.854C>G	XP_011510074.1:p.Thr285Ser
XM_011511773.1:c.551C>G	XP_011510075.1:p.Thr184Ser
XM_011511774.1:c.869C>G	XP_011510076.1:p.Thr290Ser
XM_011511775.1:c.869C>G	XP_011510077.1:p.Thr290Ser
XM_011511776.1:c.353C>G	XP_011510078.1:p.Thr118Ser
XM_011511777.1:c.353C>G	XP_011510079.1:p.Thr118Ser
XM_011511777.2:c.353C>G	XP_011510079.1:p.Thr118Ser
XM_011511778.1:c.353C>G	XP_011510080.1:p.Thr118Ser
XM_011511779.1:c.*54C>G	XP_011510081.1:n.*54C>G
XM_017004851.1:c.980C>G	XP_016860340.1:p.Thr327Ser
XM_017004852.1:c.767C>G	XP_016860341.1:p.Thr256Ser
XM_017004853.1:c.980C>G	XP_016860342.1:p.Thr327Ser
XM_017004854.1:c.980C>G	XP_016860343.1:p.Thr327Ser
XR_001738924.1:n.924C>G