Canonical Allele Identifier: CA347974443

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029463T>G (hg19) ; chr2:g.101413001T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413001T>G , CM000664.2:g.101413001T>G	GRCh38
NC_000002.11:g.102029463T>G , CM000664.1:g.102029463T>G	GRCh37
NC_000002.10:g.101395895T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.971A>C	ENSP00000494249.2:p.Asn324Thr
ENST00000428343.6:c.632A>C MANE Select	ENSP00000401536.1:p.Asn211Thr
ENST00000646446.1:c.845A>C	ENSP00000494216.1:p.Asn282Thr
ENST00000646893.1:c.758A>C	ENSP00000494249.1:p.Asn253Thr
ENST00000428343.5:c.632A>C	ENSP00000401536.1:p.Asn211Thr
ENST00000481179.5:c.*348A>C	ENSP00000422968.1:n.*348A>C
NM_001145664.1:c.632A>C	NP_001139136.1:p.Asn211Thr
XM_011511771.1:c.860A>C	XP_011510073.1:p.Asn287Thr
XM_011511772.1:c.845A>C	XP_011510074.1:p.Asn282Thr
XM_011511773.1:c.542A>C	XP_011510075.1:p.Asn181Thr
XM_011511774.1:c.860A>C	XP_011510076.1:p.Asn287Thr
XM_011511775.1:c.860A>C	XP_011510077.1:p.Asn287Thr
XM_011511776.1:c.344A>C	XP_011510078.1:p.Asn115Thr
XM_011511777.1:c.344A>C	XP_011510079.1:p.Asn115Thr
XM_011511778.1:c.344A>C	XP_011510080.1:p.Asn115Thr
XM_011511779.1:c.*45A>C	XP_011510081.1:n.*45A>C
XM_011511771.2:c.860A>C	XP_011510073.1:p.Asn287Thr
XM_011511777.2:c.344A>C	XP_011510079.1:p.Asn115Thr
XM_017004851.1:c.971A>C	XP_016860340.1:p.Asn324Thr
XM_017004852.1:c.758A>C	XP_016860341.1:p.Asn253Thr
XM_017004853.1:c.971A>C	XP_016860342.1:p.Asn324Thr
XM_017004854.1:c.971A>C	XP_016860343.1:p.Asn324Thr
XR_001738924.1:n.915A>C
NM_001145664.2:c.632A>C MANE Select	NP_001139136.2:p.Asn211Thr
NM_001367508.1:c.119A>C	NP_001354437.1:p.Asn40Thr
NM_001367509.1:c.119A>C	NP_001354438.1:p.Asn40Thr
NM_001367510.1:c.119A>C	NP_001354439.1:p.Asn40Thr