Canonical Allele Identifier: CA347974534

Gene: RFX8

Linked Data

• dbSNP Id: rs1465723900
• gnomAD v2: 2-102029505-C-G
• gnomAD v4: 2-101413043-C-G
• MyVariant Identifiers: chr2:g.102029505C>G (hg19) ; chr2:g.101413043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413043C>G , CM000664.2:g.101413043C>G	GRCh38
NC_000002.11:g.102029505C>G , CM000664.1:g.102029505C>G	GRCh37
NC_000002.10:g.101395937C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.929G>C	ENSP00000494249.2:p.Arg310Thr
ENST00000428343.6:c.590G>C MANE Select	ENSP00000401536.1:p.Arg197Thr
ENST00000646446.1:c.803G>C	ENSP00000494216.1:p.Arg268Thr
ENST00000646893.1:c.716G>C	ENSP00000494249.1:p.Arg239Thr
ENST00000428343.5:c.590G>C	ENSP00000401536.1:p.Arg197Thr
ENST00000481179.5:c.*306G>C	ENSP00000422968.1:n.*306G>C
NM_001145664.1:c.590G>C	NP_001139136.1:p.Arg197Thr
XM_011511771.1:c.818G>C	XP_011510073.1:p.Arg273Thr
XM_011511772.1:c.803G>C	XP_011510074.1:p.Arg268Thr
XM_011511773.1:c.500G>C	XP_011510075.1:p.Arg167Thr
XM_011511774.1:c.818G>C	XP_011510076.1:p.Arg273Thr
XM_011511775.1:c.818G>C	XP_011510077.1:p.Arg273Thr
XM_011511776.1:c.302G>C	XP_011510078.1:p.Arg101Thr
XM_011511777.1:c.302G>C	XP_011510079.1:p.Arg101Thr
XM_011511778.1:c.302G>C	XP_011510080.1:p.Arg101Thr
XM_011511779.1:c.*3G>C	XP_011510081.1:n.*3G>C
XM_011511771.2:c.818G>C	XP_011510073.1:p.Arg273Thr
XM_011511777.2:c.302G>C	XP_011510079.1:p.Arg101Thr
XM_017004851.1:c.929G>C	XP_016860340.1:p.Arg310Thr
XM_017004852.1:c.716G>C	XP_016860341.1:p.Arg239Thr
XM_017004853.1:c.929G>C	XP_016860342.1:p.Arg310Thr
XM_017004854.1:c.929G>C	XP_016860343.1:p.Arg310Thr
XR_001738924.1:n.873G>C
NM_001145664.2:c.590G>C MANE Select	NP_001139136.2:p.Arg197Thr
NM_001367508.1:c.77G>C	NP_001354437.1:p.Arg26Thr
NM_001367509.1:c.77G>C	NP_001354438.1:p.Arg26Thr
NM_001367510.1:c.77G>C	NP_001354439.1:p.Arg26Thr