Canonical Allele Identifier: CA347974499

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029488T>G (hg19) ; chr2:g.101413026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413026T>G , CM000664.2:g.101413026T>G	GRCh38
NC_000002.11:g.102029488T>G , CM000664.1:g.102029488T>G	GRCh37
NC_000002.10:g.101395920T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.946A>C	ENSP00000494249.2:p.Lys316Gln
ENST00000428343.6:c.607A>C MANE Select	ENSP00000401536.1:p.Lys203Gln
ENST00000646446.1:c.820A>C	ENSP00000494216.1:p.Lys274Gln
ENST00000646893.1:c.733A>C	ENSP00000494249.1:p.Lys245Gln
ENST00000428343.5:c.607A>C	ENSP00000401536.1:p.Lys203Gln
ENST00000481179.5:c.*323A>C	ENSP00000422968.1:n.*323A>C
NM_001145664.1:c.607A>C	NP_001139136.1:p.Lys203Gln
XM_011511771.1:c.835A>C	XP_011510073.1:p.Lys279Gln
XM_011511772.1:c.820A>C	XP_011510074.1:p.Lys274Gln
XM_011511773.1:c.517A>C	XP_011510075.1:p.Lys173Gln
XM_011511774.1:c.835A>C	XP_011510076.1:p.Lys279Gln
XM_011511775.1:c.835A>C	XP_011510077.1:p.Lys279Gln
XM_011511776.1:c.319A>C	XP_011510078.1:p.Lys107Gln
XM_011511777.1:c.319A>C	XP_011510079.1:p.Lys107Gln
XM_011511778.1:c.319A>C	XP_011510080.1:p.Lys107Gln
XM_011511779.1:c.*20A>C	XP_011510081.1:n.*20A>C
XM_011511771.2:c.835A>C	XP_011510073.1:p.Lys279Gln
XM_011511777.2:c.319A>C	XP_011510079.1:p.Lys107Gln
XM_017004851.1:c.946A>C	XP_016860340.1:p.Lys316Gln
XM_017004852.1:c.733A>C	XP_016860341.1:p.Lys245Gln
XM_017004853.1:c.946A>C	XP_016860342.1:p.Lys316Gln
XM_017004854.1:c.946A>C	XP_016860343.1:p.Lys316Gln
XR_001738924.1:n.890A>C
NM_001145664.2:c.607A>C MANE Select	NP_001139136.2:p.Lys203Gln
NM_001367508.1:c.94A>C	NP_001354437.1:p.Lys32Gln
NM_001367509.1:c.94A>C	NP_001354438.1:p.Lys32Gln
NM_001367510.1:c.94A>C	NP_001354439.1:p.Lys32Gln