Canonical Allele Identifier: CA1274778592

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412978T= , CM000664.2:g.101412978T=	GRCh38
NC_000002.11:g.102029440T= , CM000664.1:g.102029440T=	GRCh37
NC_000002.10:g.101395872T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.994A=	ENSP00000494249.2:p.Lys332=
ENST00000428343.6:c.655A= MANE Select	ENSP00000401536.1:p.Lys219=
ENST00000646446.1:c.868A=	ENSP00000494216.1:p.Lys290=
ENST00000646893.1:c.781A=	ENSP00000494249.1:p.Lys261=
ENST00000428343.5:c.655A=	ENSP00000401536.1:p.Lys219=
ENST00000481179.5:c.*371A=	ENSP00000422968.1:n.*371A=
NM_001145664.1:c.655A=	NP_001139136.1:p.Lys219=
XM_011511771.1:c.883A=	XP_011510073.1:p.Lys295=
XM_011511772.1:c.868A=	XP_011510074.1:p.Lys290=
XM_011511773.1:c.565A=	XP_011510075.1:p.Lys189=
XM_011511774.1:c.883A=	XP_011510076.1:p.Lys295=
XM_011511775.1:c.883A=	XP_011510077.1:p.Lys295=
XM_011511776.1:c.367A=	XP_011510078.1:p.Lys123=
XM_011511777.1:c.367A=	XP_011510079.1:p.Lys123=
XM_011511778.1:c.367A=	XP_011510080.1:p.Lys123=
XM_011511779.1:c.*68A=	XP_011510081.1:n.*68A=
XM_011511771.2:c.883A=	XP_011510073.1:p.Lys295=
XM_011511777.2:c.367A=	XP_011510079.1:p.Lys123=
XM_017004851.1:c.994A=	XP_016860340.1:p.Lys332=
XM_017004852.1:c.781A=	XP_016860341.1:p.Lys261=
XM_017004853.1:c.994A=	XP_016860342.1:p.Lys332=
XM_017004854.1:c.994A=	XP_016860343.1:p.Lys332=
XR_001738924.1:n.938A=
NM_001145664.2:c.655A= MANE Select	NP_001139136.2:p.Lys219=
NM_001367508.1:c.142A=	NP_001354437.1:p.Lys48=
NM_001367509.1:c.142A=	NP_001354438.1:p.Lys48=
NM_001367510.1:c.142A=	NP_001354439.1:p.Lys48=