Canonical Allele Identifier: CA1274778569

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412926G= , CM000664.2:g.101412926G=	GRCh38
NC_000002.11:g.102029388G= , CM000664.1:g.102029388G=	GRCh37
NC_000002.10:g.101395820G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1046C=	ENSP00000494249.2:p.Pro349=
ENST00000428343.6:c.707C= MANE Select	ENSP00000401536.1:p.Pro236=
ENST00000646446.1:c.920C=	ENSP00000494216.1:p.Pro307=
ENST00000646893.1:c.833C=	ENSP00000494249.1:p.Pro278=
ENST00000428343.5:c.707C=	ENSP00000401536.1:p.Pro236=
ENST00000481179.5:c.*423C=	ENSP00000422968.1:n.*423C=
NM_001145664.1:c.707C=	NP_001139136.1:p.Pro236=
XM_011511771.1:c.935C=	XP_011510073.1:p.Pro312=
XM_011511772.1:c.920C=	XP_011510074.1:p.Pro307=
XM_011511773.1:c.617C=	XP_011510075.1:p.Pro206=
XM_011511774.1:c.935C=	XP_011510076.1:p.Pro312=
XM_011511775.1:c.935C=	XP_011510077.1:p.Pro312=
XM_011511776.1:c.419C=	XP_011510078.1:p.Pro140=
XM_011511777.1:c.419C=	XP_011510079.1:p.Pro140=
XM_011511778.1:c.419C=	XP_011510080.1:p.Pro140=
XM_011511771.2:c.935C=	XP_011510073.1:p.Pro312=
XM_011511777.2:c.419C=	XP_011510079.1:p.Pro140=
XM_017004851.1:c.1046C=	XP_016860340.1:p.Pro349=
XM_017004852.1:c.833C=	XP_016860341.1:p.Pro278=
XM_017004853.1:c.1046C=	XP_016860342.1:p.Pro349=
XM_017004854.1:c.1046C=	XP_016860343.1:p.Pro349=
XR_001738924.1:n.990C=
NM_001145664.2:c.707C= MANE Select	NP_001139136.2:p.Pro236=
NM_001367508.1:c.194C=	NP_001354437.1:p.Pro65=
NM_001367509.1:c.194C=	NP_001354438.1:p.Pro65=
NM_001367510.1:c.194C=	NP_001354439.1:p.Pro65=