Canonical Allele Identifier: CA53230240

Gene: RFX8

Linked Data

• dbSNP Id: rs962868239
• gnomAD v2: 2-102029430-A-C
• gnomAD v4: 2-101412968-A-C
• COSMIC: COSM6302010 ; COSM6302011
• MyVariant Identifiers: chr2:g.102029430A>C (hg19) ; chr2:g.101412968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412968A>C , CM000664.2:g.101412968A>C	GRCh38
NC_000002.11:g.102029430A>C , CM000664.1:g.102029430A>C	GRCh37
NC_000002.10:g.101395862A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1004T>G	ENSP00000494249.2:p.Leu335Arg
ENST00000428343.6:c.665T>G MANE Select	ENSP00000401536.1:p.Leu222Arg
ENST00000646446.1:c.878T>G	ENSP00000494216.1:p.Leu293Arg
ENST00000646893.1:c.791T>G	ENSP00000494249.1:p.Leu264Arg
ENST00000428343.5:c.665T>G	ENSP00000401536.1:p.Leu222Arg
ENST00000481179.5:c.*381T>G	ENSP00000422968.1:n.*381T>G
NM_001145664.1:c.665T>G	NP_001139136.1:p.Leu222Arg
XM_011511771.1:c.893T>G	XP_011510073.1:p.Leu298Arg
XM_011511772.1:c.878T>G	XP_011510074.1:p.Leu293Arg
XM_011511773.1:c.575T>G	XP_011510075.1:p.Leu192Arg
XM_011511774.1:c.893T>G	XP_011510076.1:p.Leu298Arg
XM_011511775.1:c.893T>G	XP_011510077.1:p.Leu298Arg
XM_011511776.1:c.377T>G	XP_011510078.1:p.Leu126Arg
XM_011511777.1:c.377T>G	XP_011510079.1:p.Leu126Arg
XM_011511778.1:c.377T>G	XP_011510080.1:p.Leu126Arg
XM_011511779.1:c.*78T>G	XP_011510081.1:n.*78T>G
XM_011511771.2:c.893T>G	XP_011510073.1:p.Leu298Arg
XM_011511777.2:c.377T>G	XP_011510079.1:p.Leu126Arg
XM_017004851.1:c.1004T>G	XP_016860340.1:p.Leu335Arg
XM_017004852.1:c.791T>G	XP_016860341.1:p.Leu264Arg
XM_017004853.1:c.1004T>G	XP_016860342.1:p.Leu335Arg
XM_017004854.1:c.1004T>G	XP_016860343.1:p.Leu335Arg
XR_001738924.1:n.948T>G
NM_001145664.2:c.665T>G MANE Select	NP_001139136.2:p.Leu222Arg
NM_001367508.1:c.152T>G	NP_001354437.1:p.Leu51Arg
NM_001367509.1:c.152T>G	NP_001354438.1:p.Leu51Arg
NM_001367510.1:c.152T>G	NP_001354439.1:p.Leu51Arg