Canonical Allele Identifier: CA347974373

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029431G>C (hg19) ; chr2:g.101412969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412969G>C , CM000664.2:g.101412969G>C	GRCh38
NC_000002.11:g.102029431G>C , CM000664.1:g.102029431G>C	GRCh37
NC_000002.10:g.101395863G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1003C>G	ENSP00000494249.2:p.Leu335Val
ENST00000428343.6:c.664C>G MANE Select	ENSP00000401536.1:p.Leu222Val
ENST00000646446.1:c.877C>G	ENSP00000494216.1:p.Leu293Val
ENST00000646893.1:c.790C>G	ENSP00000494249.1:p.Leu264Val
ENST00000428343.5:c.664C>G	ENSP00000401536.1:p.Leu222Val
ENST00000481179.5:c.*380C>G	ENSP00000422968.1:n.*380C>G
NM_001145664.1:c.664C>G	NP_001139136.1:p.Leu222Val
XM_011511771.1:c.892C>G	XP_011510073.1:p.Leu298Val
XM_011511772.1:c.877C>G	XP_011510074.1:p.Leu293Val
XM_011511773.1:c.574C>G	XP_011510075.1:p.Leu192Val
XM_011511774.1:c.892C>G	XP_011510076.1:p.Leu298Val
XM_011511775.1:c.892C>G	XP_011510077.1:p.Leu298Val
XM_011511776.1:c.376C>G	XP_011510078.1:p.Leu126Val
XM_011511777.1:c.376C>G	XP_011510079.1:p.Leu126Val
XM_011511778.1:c.376C>G	XP_011510080.1:p.Leu126Val
XM_011511779.1:c.*77C>G	XP_011510081.1:n.*77C>G
XM_011511771.2:c.892C>G	XP_011510073.1:p.Leu298Val
XM_011511777.2:c.376C>G	XP_011510079.1:p.Leu126Val
XM_017004851.1:c.1003C>G	XP_016860340.1:p.Leu335Val
XM_017004852.1:c.790C>G	XP_016860341.1:p.Leu264Val
XM_017004853.1:c.1003C>G	XP_016860342.1:p.Leu335Val
XM_017004854.1:c.1003C>G	XP_016860343.1:p.Leu335Val
XR_001738924.1:n.947C>G
NM_001145664.2:c.664C>G MANE Select	NP_001139136.2:p.Leu222Val
NM_001367508.1:c.151C>G	NP_001354437.1:p.Leu51Val
NM_001367509.1:c.151C>G	NP_001354438.1:p.Leu51Val
NM_001367510.1:c.151C>G	NP_001354439.1:p.Leu51Val