Canonical Allele Identifier: CA1274778572

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412931G= , CM000664.2:g.101412931G=	GRCh38
NC_000002.11:g.102029393G= , CM000664.1:g.102029393G=	GRCh37
NC_000002.10:g.101395825G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1041C=	ENSP00000494249.2:p.Asn347=
ENST00000428343.6:c.702C= MANE Select	ENSP00000401536.1:p.Asn234=
ENST00000646446.1:c.915C=	ENSP00000494216.1:p.Asn305=
ENST00000646893.1:c.828C=	ENSP00000494249.1:p.Asn276=
ENST00000428343.5:c.702C=	ENSP00000401536.1:p.Asn234=
ENST00000481179.5:c.*418C=	ENSP00000422968.1:n.*418C=
NM_001145664.1:c.702C=	NP_001139136.1:p.Asn234=
XM_011511771.1:c.930C=	XP_011510073.1:p.Asn310=
XM_011511772.1:c.915C=	XP_011510074.1:p.Asn305=
XM_011511773.1:c.612C=	XP_011510075.1:p.Asn204=
XM_011511774.1:c.930C=	XP_011510076.1:p.Asn310=
XM_011511775.1:c.930C=	XP_011510077.1:p.Asn310=
XM_011511776.1:c.414C=	XP_011510078.1:p.Asn138=
XM_011511777.1:c.414C=	XP_011510079.1:p.Asn138=
XM_011511778.1:c.414C=	XP_011510080.1:p.Asn138=
XM_011511771.2:c.930C=	XP_011510073.1:p.Asn310=
XM_011511777.2:c.414C=	XP_011510079.1:p.Asn138=
XM_017004851.1:c.1041C=	XP_016860340.1:p.Asn347=
XM_017004852.1:c.828C=	XP_016860341.1:p.Asn276=
XM_017004853.1:c.1041C=	XP_016860342.1:p.Asn347=
XM_017004854.1:c.1041C=	XP_016860343.1:p.Asn347=
XR_001738924.1:n.985C=
NM_001145664.2:c.702C= MANE Select	NP_001139136.2:p.Asn234=
NM_001367508.1:c.189C=	NP_001354437.1:p.Asn63=
NM_001367509.1:c.189C=	NP_001354438.1:p.Asn63=
NM_001367510.1:c.189C=	NP_001354439.1:p.Asn63=