Canonical Allele Identifier: CA347974571

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029521C>T (hg19) ; chr2:g.101413059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413059C>T , CM000664.2:g.101413059C>T	GRCh38
NC_000002.11:g.102029521C>T , CM000664.1:g.102029521C>T	GRCh37
NC_000002.10:g.101395953C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.913G>A	ENSP00000494249.2:p.Val305Ile
ENST00000428343.6:c.574G>A MANE Select	ENSP00000401536.1:p.Val192Ile
ENST00000646446.1:c.787G>A	ENSP00000494216.1:p.Val263Ile
ENST00000646893.1:c.700G>A	ENSP00000494249.1:p.Val234Ile
ENST00000428343.5:c.574G>A	ENSP00000401536.1:p.Val192Ile
ENST00000481179.5:c.*290G>A	ENSP00000422968.1:n.*290G>A
NM_001145664.1:c.574G>A	NP_001139136.1:p.Val192Ile
XM_011511771.1:c.802G>A	XP_011510073.1:p.Val268Ile
XM_011511772.1:c.787G>A	XP_011510074.1:p.Val263Ile
XM_011511773.1:c.484G>A	XP_011510075.1:p.Val162Ile
XM_011511774.1:c.802G>A	XP_011510076.1:p.Val268Ile
XM_011511775.1:c.802G>A	XP_011510077.1:p.Val268Ile
XM_011511776.1:c.286G>A	XP_011510078.1:p.Val96Ile
XM_011511777.1:c.286G>A	XP_011510079.1:p.Val96Ile
XM_011511778.1:c.286G>A	XP_011510080.1:p.Val96Ile
XM_011511779.1:c.743G>A	XP_011510081.1:p.Gly248Asp
XM_011511771.2:c.802G>A	XP_011510073.1:p.Val268Ile
XM_011511777.2:c.286G>A	XP_011510079.1:p.Val96Ile
XM_017004851.1:c.913G>A	XP_016860340.1:p.Val305Ile
XM_017004852.1:c.700G>A	XP_016860341.1:p.Val234Ile
XM_017004853.1:c.913G>A	XP_016860342.1:p.Val305Ile
XM_017004854.1:c.913G>A	XP_016860343.1:p.Val305Ile
XR_001738924.1:n.857G>A
NM_001145664.2:c.574G>A MANE Select	NP_001139136.2:p.Val192Ile
NM_001367508.1:c.61G>A	NP_001354437.1:p.Val21Ile
NM_001367509.1:c.61G>A	NP_001354438.1:p.Val21Ile
NM_001367510.1:c.61G>A	NP_001354439.1:p.Val21Ile