Canonical Allele Identifier: CA347974551

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029512T>A (hg19) ; chr2:g.101413050T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413050T>A , CM000664.2:g.101413050T>A	GRCh38
NC_000002.11:g.102029512T>A , CM000664.1:g.102029512T>A	GRCh37
NC_000002.10:g.101395944T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.922A>T	ENSP00000494249.2:p.Ser308Cys
ENST00000428343.6:c.583A>T MANE Select	ENSP00000401536.1:p.Ser195Cys
ENST00000646446.1:c.796A>T	ENSP00000494216.1:p.Ser266Cys
ENST00000646893.1:c.709A>T	ENSP00000494249.1:p.Ser237Cys
ENST00000428343.5:c.583A>T	ENSP00000401536.1:p.Ser195Cys
ENST00000481179.5:c.*299A>T	ENSP00000422968.1:n.*299A>T
NM_001145664.1:c.583A>T	NP_001139136.1:p.Ser195Cys
XM_011511771.1:c.811A>T	XP_011510073.1:p.Ser271Cys
XM_011511772.1:c.796A>T	XP_011510074.1:p.Ser266Cys
XM_011511773.1:c.493A>T	XP_011510075.1:p.Ser165Cys
XM_011511774.1:c.811A>T	XP_011510076.1:p.Ser271Cys
XM_011511775.1:c.811A>T	XP_011510077.1:p.Ser271Cys
XM_011511776.1:c.295A>T	XP_011510078.1:p.Ser99Cys
XM_011511777.1:c.295A>T	XP_011510079.1:p.Ser99Cys
XM_011511778.1:c.295A>T	XP_011510080.1:p.Ser99Cys
XM_011511779.1:c.752A>T	XP_011510081.1:p.Lys251Met
XM_011511771.2:c.811A>T	XP_011510073.1:p.Ser271Cys
XM_011511777.2:c.295A>T	XP_011510079.1:p.Ser99Cys
XM_017004851.1:c.922A>T	XP_016860340.1:p.Ser308Cys
XM_017004852.1:c.709A>T	XP_016860341.1:p.Ser237Cys
XM_017004853.1:c.922A>T	XP_016860342.1:p.Ser308Cys
XM_017004854.1:c.922A>T	XP_016860343.1:p.Ser308Cys
XR_001738924.1:n.866A>T
NM_001145664.2:c.583A>T MANE Select	NP_001139136.2:p.Ser195Cys
NM_001367508.1:c.70A>T	NP_001354437.1:p.Ser24Cys
NM_001367509.1:c.70A>T	NP_001354438.1:p.Ser24Cys
NM_001367510.1:c.70A>T	NP_001354439.1:p.Ser24Cys