Canonical Allele Identifier: CA1274778477

Gene: RFX8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412748G= , CM000664.2:g.101412748G=	GRCh38
NC_000002.11:g.102029210G= , CM000664.1:g.102029210G=	GRCh37
NC_000002.10:g.101395642G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+167C=	ENSP00000494249.2:n.1057+167C=
ENST00000428343.6:c.718+167C= MANE Select	ENSP00000401536.1:n.718+167C=
ENST00000646446.1:c.931+167C=	ENSP00000494216.1:n.931+167C=
ENST00000646893.1:c.844+167C=	ENSP00000494249.1:n.844+167C=
ENST00000428343.5:c.718+167C=	ENSP00000401536.1:n.718+167C=
ENST00000481179.5:c.*434+167C=	ENSP00000422968.1:n.*434+167C=
NM_001145664.1:c.718+167C=	NP_001139136.1:n.718+167C=
XM_011511771.1:c.946+167C=	XP_011510073.1:n.946+167C=
XM_011511772.1:c.931+167C=	XP_011510074.1:n.931+167C=
XM_011511773.1:c.628+167C=	XP_011510075.1:n.628+167C=
XM_011511774.1:c.946+167C=	XP_011510076.1:n.946+167C=
XM_011511775.1:c.946+167C=	XP_011510077.1:n.946+167C=
XM_011511776.1:c.430+167C=	XP_011510078.1:n.430+167C=
XM_011511777.1:c.430+167C=	XP_011510079.1:n.430+167C=
XM_011511778.1:c.430+167C=	XP_011510080.1:n.430+167C=
XM_011511771.2:c.946+167C=	XP_011510073.1:n.946+167C=
XM_011511777.2:c.430+167C=	XP_011510079.1:n.430+167C=
XM_017004851.1:c.1057+167C=	XP_016860340.1:n.1057+167C=
XM_017004852.1:c.844+167C=	XP_016860341.1:n.844+167C=
XM_017004853.1:c.1057+167C=	XP_016860342.1:n.1057+167C=
XM_017004854.1:c.1057+167C=	XP_016860343.1:n.1057+167C=
XR_001738924.1:n.1001+167C=
NM_001145664.2:c.718+167C= MANE Select	NP_001139136.2:n.718+167C=
NM_001367508.1:c.205+167C=	NP_001354437.1:n.205+167C=
NM_001367509.1:c.205+167C=	NP_001354438.1:n.205+167C=
NM_001367510.1:c.205+167C=	NP_001354439.1:n.205+167C=