Canonical Allele Identifier: CA347974378

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029434C>A (hg19) ; chr2:g.101412972C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412972C>A , CM000664.2:g.101412972C>A	GRCh38
NC_000002.11:g.102029434C>A , CM000664.1:g.102029434C>A	GRCh37
NC_000002.10:g.101395866C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1000G>T	ENSP00000494249.2:p.Ala334Ser
ENST00000428343.6:c.661G>T MANE Select	ENSP00000401536.1:p.Ala221Ser
ENST00000646446.1:c.874G>T	ENSP00000494216.1:p.Ala292Ser
ENST00000646893.1:c.787G>T	ENSP00000494249.1:p.Ala263Ser
ENST00000428343.5:c.661G>T	ENSP00000401536.1:p.Ala221Ser
ENST00000481179.5:c.*377G>T	ENSP00000422968.1:n.*377G>T
NM_001145664.1:c.661G>T	NP_001139136.1:p.Ala221Ser
XM_011511771.1:c.889G>T	XP_011510073.1:p.Ala297Ser
XM_011511772.1:c.874G>T	XP_011510074.1:p.Ala292Ser
XM_011511773.1:c.571G>T	XP_011510075.1:p.Ala191Ser
XM_011511774.1:c.889G>T	XP_011510076.1:p.Ala297Ser
XM_011511775.1:c.889G>T	XP_011510077.1:p.Ala297Ser
XM_011511776.1:c.373G>T	XP_011510078.1:p.Ala125Ser
XM_011511777.1:c.373G>T	XP_011510079.1:p.Ala125Ser
XM_011511778.1:c.373G>T	XP_011510080.1:p.Ala125Ser
XM_011511779.1:c.*74G>T	XP_011510081.1:n.*74G>T
XM_011511771.2:c.889G>T	XP_011510073.1:p.Ala297Ser
XM_011511777.2:c.373G>T	XP_011510079.1:p.Ala125Ser
XM_017004851.1:c.1000G>T	XP_016860340.1:p.Ala334Ser
XM_017004852.1:c.787G>T	XP_016860341.1:p.Ala263Ser
XM_017004853.1:c.1000G>T	XP_016860342.1:p.Ala334Ser
XM_017004854.1:c.1000G>T	XP_016860343.1:p.Ala334Ser
XR_001738924.1:n.944G>T
NM_001145664.2:c.661G>T MANE Select	NP_001139136.2:p.Ala221Ser
NM_001367508.1:c.148G>T	NP_001354437.1:p.Ala50Ser
NM_001367509.1:c.148G>T	NP_001354438.1:p.Ala50Ser
NM_001367510.1:c.148G>T	NP_001354439.1:p.Ala50Ser