Canonical Allele Identifier: CA53230247

Gene: RFX8

Linked Data

• dbSNP Id: rs1056567783
• gnomAD v2: 2-102029470-T-C
• gnomAD v3: 2-101413008-T-C
• gnomAD v4: 2-101413008-T-C
• MyVariant Identifiers: chr2:g.102029470T>C (hg19) ; chr2:g.101413008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413008T>C , CM000664.2:g.101413008T>C	GRCh38
NC_000002.11:g.102029470T>C , CM000664.1:g.102029470T>C	GRCh37
NC_000002.10:g.101395902T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.964A>G	ENSP00000494249.2:p.Ile322Val
ENST00000428343.6:c.625A>G MANE Select	ENSP00000401536.1:p.Ile209Val
ENST00000646446.1:c.838A>G	ENSP00000494216.1:p.Ile280Val
ENST00000646893.1:c.751A>G	ENSP00000494249.1:p.Ile251Val
ENST00000428343.5:c.625A>G	ENSP00000401536.1:p.Ile209Val
ENST00000481179.5:c.*341A>G	ENSP00000422968.1:n.*341A>G
NM_001145664.1:c.625A>G	NP_001139136.1:p.Ile209Val
XM_011511771.1:c.853A>G	XP_011510073.1:p.Ile285Val
XM_011511772.1:c.838A>G	XP_011510074.1:p.Ile280Val
XM_011511773.1:c.535A>G	XP_011510075.1:p.Ile179Val
XM_011511774.1:c.853A>G	XP_011510076.1:p.Ile285Val
XM_011511775.1:c.853A>G	XP_011510077.1:p.Ile285Val
XM_011511776.1:c.337A>G	XP_011510078.1:p.Ile113Val
XM_011511777.1:c.337A>G	XP_011510079.1:p.Ile113Val
XM_011511778.1:c.337A>G	XP_011510080.1:p.Ile113Val
XM_011511779.1:c.*38A>G	XP_011510081.1:n.*38A>G
XM_011511771.2:c.853A>G	XP_011510073.1:p.Ile285Val
XM_011511777.2:c.337A>G	XP_011510079.1:p.Ile113Val
XM_017004851.1:c.964A>G	XP_016860340.1:p.Ile322Val
XM_017004852.1:c.751A>G	XP_016860341.1:p.Ile251Val
XM_017004853.1:c.964A>G	XP_016860342.1:p.Ile322Val
XM_017004854.1:c.964A>G	XP_016860343.1:p.Ile322Val
XR_001738924.1:n.908A>G
NM_001145664.2:c.625A>G MANE Select	NP_001139136.2:p.Ile209Val
NM_001367508.1:c.112A>G	NP_001354437.1:p.Ile38Val
NM_001367509.1:c.112A>G	NP_001354438.1:p.Ile38Val
NM_001367510.1:c.112A>G	NP_001354439.1:p.Ile38Val