Canonical Allele Identifier: CA347974325

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412945-C-G
• MyVariant Identifiers: chr2:g.102029407C>G (hg19) ; chr2:g.101412945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412945C>G , CM000664.2:g.101412945C>G	GRCh38
NC_000002.11:g.102029407C>G , CM000664.1:g.102029407C>G	GRCh37
NC_000002.10:g.101395839C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1027G>C	ENSP00000494249.2:p.Asp343His
ENST00000428343.6:c.688G>C MANE Select	ENSP00000401536.1:p.Asp230His
ENST00000646446.1:c.901G>C	ENSP00000494216.1:p.Asp301His
ENST00000646893.1:c.814G>C	ENSP00000494249.1:p.Asp272His
ENST00000428343.5:c.688G>C	ENSP00000401536.1:p.Asp230His
ENST00000481179.5:c.*404G>C	ENSP00000422968.1:n.*404G>C
NM_001145664.1:c.688G>C	NP_001139136.1:p.Asp230His
XM_011511771.1:c.916G>C	XP_011510073.1:p.Asp306His
XM_011511772.1:c.901G>C	XP_011510074.1:p.Asp301His
XM_011511773.1:c.598G>C	XP_011510075.1:p.Asp200His
XM_011511774.1:c.916G>C	XP_011510076.1:p.Asp306His
XM_011511775.1:c.916G>C	XP_011510077.1:p.Asp306His
XM_011511776.1:c.400G>C	XP_011510078.1:p.Asp134His
XM_011511777.1:c.400G>C	XP_011510079.1:p.Asp134His
XM_011511778.1:c.400G>C	XP_011510080.1:p.Asp134His
XM_011511771.2:c.916G>C	XP_011510073.1:p.Asp306His
XM_011511777.2:c.400G>C	XP_011510079.1:p.Asp134His
XM_017004851.1:c.1027G>C	XP_016860340.1:p.Asp343His
XM_017004852.1:c.814G>C	XP_016860341.1:p.Asp272His
XM_017004853.1:c.1027G>C	XP_016860342.1:p.Asp343His
XM_017004854.1:c.1027G>C	XP_016860343.1:p.Asp343His
XR_001738924.1:n.971G>C
NM_001145664.2:c.688G>C MANE Select	NP_001139136.2:p.Asp230His
NM_001367508.1:c.175G>C	NP_001354437.1:p.Asp59His
NM_001367509.1:c.175G>C	NP_001354438.1:p.Asp59His
NM_001367510.1:c.175G>C	NP_001354439.1:p.Asp59His