Canonical Allele Identifier: CA347974416

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029451A>C (hg19) ; chr2:g.101412989A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412989A>C , CM000664.2:g.101412989A>C	GRCh38
NC_000002.11:g.102029451A>C , CM000664.1:g.102029451A>C	GRCh37
NC_000002.10:g.101395883A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.983T>G	ENSP00000494249.2:p.Leu328Trp
ENST00000428343.6:c.644T>G MANE Select	ENSP00000401536.1:p.Leu215Trp
ENST00000646446.1:c.857T>G	ENSP00000494216.1:p.Leu286Trp
ENST00000646893.1:c.770T>G	ENSP00000494249.1:p.Leu257Trp
ENST00000428343.5:c.644T>G	ENSP00000401536.1:p.Leu215Trp
ENST00000481179.5:c.*360T>G	ENSP00000422968.1:n.*360T>G
NM_001145664.1:c.644T>G	NP_001139136.1:p.Leu215Trp
XM_011511771.1:c.872T>G	XP_011510073.1:p.Leu291Trp
XM_011511772.1:c.857T>G	XP_011510074.1:p.Leu286Trp
XM_011511773.1:c.554T>G	XP_011510075.1:p.Leu185Trp
XM_011511774.1:c.872T>G	XP_011510076.1:p.Leu291Trp
XM_011511775.1:c.872T>G	XP_011510077.1:p.Leu291Trp
XM_011511776.1:c.356T>G	XP_011510078.1:p.Leu119Trp
XM_011511777.1:c.356T>G	XP_011510079.1:p.Leu119Trp
XM_011511778.1:c.356T>G	XP_011510080.1:p.Leu119Trp
XM_011511779.1:c.*57T>G	XP_011510081.1:n.*57T>G
XM_011511771.2:c.872T>G	XP_011510073.1:p.Leu291Trp
XM_011511777.2:c.356T>G	XP_011510079.1:p.Leu119Trp
XM_017004851.1:c.983T>G	XP_016860340.1:p.Leu328Trp
XM_017004852.1:c.770T>G	XP_016860341.1:p.Leu257Trp
XM_017004853.1:c.983T>G	XP_016860342.1:p.Leu328Trp
XM_017004854.1:c.983T>G	XP_016860343.1:p.Leu328Trp
XR_001738924.1:n.927T>G
NM_001145664.2:c.644T>G MANE Select	NP_001139136.2:p.Leu215Trp
NM_001367508.1:c.131T>G	NP_001354437.1:p.Leu44Trp
NM_001367509.1:c.131T>G	NP_001354438.1:p.Leu44Trp
NM_001367510.1:c.131T>G	NP_001354439.1:p.Leu44Trp