Canonical Allele Identifier: CA347974282

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412927-G-T
• MyVariant Identifiers: chr2:g.102029389G>T (hg19) ; chr2:g.101412927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412927G>T , CM000664.2:g.101412927G>T	GRCh38
NC_000002.11:g.102029389G>T , CM000664.1:g.102029389G>T	GRCh37
NC_000002.10:g.101395821G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1045C>A	ENSP00000494249.2:p.Pro349Thr
ENST00000428343.6:c.706C>A MANE Select	ENSP00000401536.1:p.Pro236Thr
ENST00000646446.1:c.919C>A	ENSP00000494216.1:p.Pro307Thr
ENST00000646893.1:c.832C>A	ENSP00000494249.1:p.Pro278Thr
ENST00000428343.5:c.706C>A	ENSP00000401536.1:p.Pro236Thr
ENST00000481179.5:c.*422C>A	ENSP00000422968.1:n.*422C>A
NM_001145664.1:c.706C>A	NP_001139136.1:p.Pro236Thr
XM_011511771.1:c.934C>A	XP_011510073.1:p.Pro312Thr
XM_011511772.1:c.919C>A	XP_011510074.1:p.Pro307Thr
XM_011511773.1:c.616C>A	XP_011510075.1:p.Pro206Thr
XM_011511774.1:c.934C>A	XP_011510076.1:p.Pro312Thr
XM_011511775.1:c.934C>A	XP_011510077.1:p.Pro312Thr
XM_011511776.1:c.418C>A	XP_011510078.1:p.Pro140Thr
XM_011511777.1:c.418C>A	XP_011510079.1:p.Pro140Thr
XM_011511778.1:c.418C>A	XP_011510080.1:p.Pro140Thr
XM_011511771.2:c.934C>A	XP_011510073.1:p.Pro312Thr
XM_011511777.2:c.418C>A	XP_011510079.1:p.Pro140Thr
XM_017004851.1:c.1045C>A	XP_016860340.1:p.Pro349Thr
XM_017004852.1:c.832C>A	XP_016860341.1:p.Pro278Thr
XM_017004853.1:c.1045C>A	XP_016860342.1:p.Pro349Thr
XM_017004854.1:c.1045C>A	XP_016860343.1:p.Pro349Thr
XR_001738924.1:n.989C>A
NM_001145664.2:c.706C>A MANE Select	NP_001139136.2:p.Pro236Thr
NM_001367508.1:c.193C>A	NP_001354437.1:p.Pro65Thr
NM_001367509.1:c.193C>A	NP_001354438.1:p.Pro65Thr
NM_001367510.1:c.193C>A	NP_001354439.1:p.Pro65Thr