Canonical Allele Identifier: CA347974452

Gene: RFX8

Linked Data

• gnomAD v4: 2-101413005-T-C
• MyVariant Identifiers: chr2:g.102029467T>C (hg19) ; chr2:g.101413005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413005T>C , CM000664.2:g.101413005T>C	GRCh38
NC_000002.11:g.102029467T>C , CM000664.1:g.102029467T>C	GRCh37
NC_000002.10:g.101395899T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.967A>G	ENSP00000494249.2:p.Ile323Val
ENST00000428343.6:c.628A>G MANE Select	ENSP00000401536.1:p.Ile210Val
ENST00000646446.1:c.841A>G	ENSP00000494216.1:p.Ile281Val
ENST00000646893.1:c.754A>G	ENSP00000494249.1:p.Ile252Val
ENST00000428343.5:c.628A>G	ENSP00000401536.1:p.Ile210Val
ENST00000481179.5:c.*344A>G	ENSP00000422968.1:n.*344A>G
NM_001145664.1:c.628A>G	NP_001139136.1:p.Ile210Val
XM_011511771.1:c.856A>G	XP_011510073.1:p.Ile286Val
XM_011511772.1:c.841A>G	XP_011510074.1:p.Ile281Val
XM_011511773.1:c.538A>G	XP_011510075.1:p.Ile180Val
XM_011511774.1:c.856A>G	XP_011510076.1:p.Ile286Val
XM_011511775.1:c.856A>G	XP_011510077.1:p.Ile286Val
XM_011511776.1:c.340A>G	XP_011510078.1:p.Ile114Val
XM_011511777.1:c.340A>G	XP_011510079.1:p.Ile114Val
XM_011511778.1:c.340A>G	XP_011510080.1:p.Ile114Val
XM_011511779.1:c.*41A>G	XP_011510081.1:n.*41A>G
XM_011511771.2:c.856A>G	XP_011510073.1:p.Ile286Val
XM_011511777.2:c.340A>G	XP_011510079.1:p.Ile114Val
XM_017004851.1:c.967A>G	XP_016860340.1:p.Ile323Val
XM_017004852.1:c.754A>G	XP_016860341.1:p.Ile252Val
XM_017004853.1:c.967A>G	XP_016860342.1:p.Ile323Val
XM_017004854.1:c.967A>G	XP_016860343.1:p.Ile323Val
XR_001738924.1:n.911A>G
NM_001145664.2:c.628A>G MANE Select	NP_001139136.2:p.Ile210Val
NM_001367508.1:c.115A>G	NP_001354437.1:p.Ile39Val
NM_001367509.1:c.115A>G	NP_001354438.1:p.Ile39Val
NM_001367510.1:c.115A>G	NP_001354439.1:p.Ile39Val