Canonical Allele Identifier: CA347974283

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029390G>C (hg19) ; chr2:g.101412928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412928G>C , CM000664.2:g.101412928G>C	GRCh38
NC_000002.11:g.102029390G>C , CM000664.1:g.102029390G>C	GRCh37
NC_000002.10:g.101395822G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1044C>G	ENSP00000494249.2:p.Asn348Lys
ENST00000428343.6:c.705C>G MANE Select	ENSP00000401536.1:p.Asn235Lys
ENST00000646446.1:c.918C>G	ENSP00000494216.1:p.Asn306Lys
ENST00000646893.1:c.831C>G	ENSP00000494249.1:p.Asn277Lys
ENST00000428343.5:c.705C>G	ENSP00000401536.1:p.Asn235Lys
ENST00000481179.5:c.*421C>G	ENSP00000422968.1:n.*421C>G
NM_001145664.1:c.705C>G	NP_001139136.1:p.Asn235Lys
XM_011511771.1:c.933C>G	XP_011510073.1:p.Asn311Lys
XM_011511772.1:c.918C>G	XP_011510074.1:p.Asn306Lys
XM_011511773.1:c.615C>G	XP_011510075.1:p.Asn205Lys
XM_011511774.1:c.933C>G	XP_011510076.1:p.Asn311Lys
XM_011511775.1:c.933C>G	XP_011510077.1:p.Asn311Lys
XM_011511776.1:c.417C>G	XP_011510078.1:p.Asn139Lys
XM_011511777.1:c.417C>G	XP_011510079.1:p.Asn139Lys
XM_011511778.1:c.417C>G	XP_011510080.1:p.Asn139Lys
XM_011511771.2:c.933C>G	XP_011510073.1:p.Asn311Lys
XM_011511777.2:c.417C>G	XP_011510079.1:p.Asn139Lys
XM_017004851.1:c.1044C>G	XP_016860340.1:p.Asn348Lys
XM_017004852.1:c.831C>G	XP_016860341.1:p.Asn277Lys
XM_017004853.1:c.1044C>G	XP_016860342.1:p.Asn348Lys
XM_017004854.1:c.1044C>G	XP_016860343.1:p.Asn348Lys
XR_001738924.1:n.988C>G
NM_001145664.2:c.705C>G MANE Select	NP_001139136.2:p.Asn235Lys
NM_001367508.1:c.192C>G	NP_001354437.1:p.Asn64Lys
NM_001367509.1:c.192C>G	NP_001354438.1:p.Asn64Lys
NM_001367510.1:c.192C>G	NP_001354439.1:p.Asn64Lys