Canonical Allele Identifier: CA347974436

Gene: RFX8

Linked Data

• dbSNP Id: rs758519979
• MyVariant Identifiers: chr2:g.102029460T>G (hg19) ; chr2:g.101412998T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412998T>G , CM000664.2:g.101412998T>G	GRCh38
NC_000002.11:g.102029460T>G , CM000664.1:g.102029460T>G	GRCh37
NC_000002.10:g.101395892T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.974A>C	ENSP00000494249.2:p.Gln325Pro
ENST00000428343.6:c.635A>C MANE Select	ENSP00000401536.1:p.Gln212Pro
ENST00000646446.1:c.848A>C	ENSP00000494216.1:p.Gln283Pro
ENST00000646893.1:c.761A>C	ENSP00000494249.1:p.Gln254Pro
ENST00000428343.5:c.635A>C	ENSP00000401536.1:p.Gln212Pro
ENST00000481179.5:c.*351A>C	ENSP00000422968.1:n.*351A>C
NM_001145664.1:c.635A>C	NP_001139136.1:p.Gln212Pro
XM_011511771.1:c.863A>C	XP_011510073.1:p.Gln288Pro
XM_011511772.1:c.848A>C	XP_011510074.1:p.Gln283Pro
XM_011511773.1:c.545A>C	XP_011510075.1:p.Gln182Pro
XM_011511774.1:c.863A>C	XP_011510076.1:p.Gln288Pro
XM_011511775.1:c.863A>C	XP_011510077.1:p.Gln288Pro
XM_011511776.1:c.347A>C	XP_011510078.1:p.Gln116Pro
XM_011511777.1:c.347A>C	XP_011510079.1:p.Gln116Pro
XM_011511778.1:c.347A>C	XP_011510080.1:p.Gln116Pro
XM_011511779.1:c.*48A>C	XP_011510081.1:n.*48A>C
XM_011511771.2:c.863A>C	XP_011510073.1:p.Gln288Pro
XM_011511777.2:c.347A>C	XP_011510079.1:p.Gln116Pro
XM_017004851.1:c.974A>C	XP_016860340.1:p.Gln325Pro
XM_017004852.1:c.761A>C	XP_016860341.1:p.Gln254Pro
XM_017004853.1:c.974A>C	XP_016860342.1:p.Gln325Pro
XM_017004854.1:c.974A>C	XP_016860343.1:p.Gln325Pro
XR_001738924.1:n.918A>C
NM_001145664.2:c.635A>C MANE Select	NP_001139136.2:p.Gln212Pro
NM_001367508.1:c.122A>C	NP_001354437.1:p.Gln41Pro
NM_001367509.1:c.122A>C	NP_001354438.1:p.Gln41Pro
NM_001367510.1:c.122A>C	NP_001354439.1:p.Gln41Pro