Canonical Allele Identifier: CA1274778606

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413001T= , CM000664.2:g.101413001T=	GRCh38
NC_000002.11:g.102029463T= , CM000664.1:g.102029463T=	GRCh37
NC_000002.10:g.101395895T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.971A=	ENSP00000494249.2:p.Asn324=
ENST00000428343.6:c.632A= MANE Select	ENSP00000401536.1:p.Asn211=
ENST00000646446.1:c.845A=	ENSP00000494216.1:p.Asn282=
ENST00000646893.1:c.758A=	ENSP00000494249.1:p.Asn253=
ENST00000428343.5:c.632A=	ENSP00000401536.1:p.Asn211=
ENST00000481179.5:c.*348A=	ENSP00000422968.1:n.*348A=
NM_001145664.1:c.632A=	NP_001139136.1:p.Asn211=
XM_011511771.1:c.860A=	XP_011510073.1:p.Asn287=
XM_011511772.1:c.845A=	XP_011510074.1:p.Asn282=
XM_011511773.1:c.542A=	XP_011510075.1:p.Asn181=
XM_011511774.1:c.860A=	XP_011510076.1:p.Asn287=
XM_011511775.1:c.860A=	XP_011510077.1:p.Asn287=
XM_011511776.1:c.344A=	XP_011510078.1:p.Asn115=
XM_011511777.1:c.344A=	XP_011510079.1:p.Asn115=
XM_011511778.1:c.344A=	XP_011510080.1:p.Asn115=
XM_011511779.1:c.*45A=	XP_011510081.1:n.*45A=
XM_011511771.2:c.860A=	XP_011510073.1:p.Asn287=
XM_011511777.2:c.344A=	XP_011510079.1:p.Asn115=
XM_017004851.1:c.971A=	XP_016860340.1:p.Asn324=
XM_017004852.1:c.758A=	XP_016860341.1:p.Asn253=
XM_017004853.1:c.971A=	XP_016860342.1:p.Asn324=
XM_017004854.1:c.971A=	XP_016860343.1:p.Asn324=
XR_001738924.1:n.915A=
NM_001145664.2:c.632A= MANE Select	NP_001139136.2:p.Asn211=
NM_001367508.1:c.119A=	NP_001354437.1:p.Asn40=
NM_001367509.1:c.119A=	NP_001354438.1:p.Asn40=
NM_001367510.1:c.119A=	NP_001354439.1:p.Asn40=