Canonical Allele Identifier: CA1806431

Gene: RFX8

Linked Data

• ClinVar Variation Id: 2511383
• ClinVar RCV Id: RCV004282456
• dbSNP Id: rs758519979
• ExAC: 2:102029460 T / A
• gnomAD v2: 2-102029460-T-A
• gnomAD v3: 2-101412998-T-A
• gnomAD v4: 2-101412998-T-A
• MyVariant Identifiers: chr2:g.102029460T>A (hg19) ; chr2:g.102029460_102029461delinsAG (hg19) ; chr2:g.101412998T>A (hg38) ; chr2:g.101412998_101412999delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412998T>A , CM000664.2:g.101412998T>A	GRCh38
NC_000002.11:g.102029460T>A , CM000664.1:g.102029460T>A	GRCh37
NC_000002.10:g.101395892T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.974A>T	ENSP00000494249.2:p.Gln325Leu
ENST00000428343.6:c.635A>T MANE Select	ENSP00000401536.1:p.Gln212Leu
ENST00000646446.1:c.848A>T	ENSP00000494216.1:p.Gln283Leu
ENST00000646893.1:c.761A>T	ENSP00000494249.1:p.Gln254Leu
ENST00000428343.5:c.635A>T	ENSP00000401536.1:p.Gln212Leu
ENST00000481179.5:c.*351A>T	ENSP00000422968.1:n.*351A>T
NM_001145664.1:c.635A>T	NP_001139136.1:p.Gln212Leu
XM_011511771.1:c.863A>T	XP_011510073.1:p.Gln288Leu
XM_011511772.1:c.848A>T	XP_011510074.1:p.Gln283Leu
XM_011511773.1:c.545A>T	XP_011510075.1:p.Gln182Leu
XM_011511774.1:c.863A>T	XP_011510076.1:p.Gln288Leu
XM_011511775.1:c.863A>T	XP_011510077.1:p.Gln288Leu
XM_011511776.1:c.347A>T	XP_011510078.1:p.Gln116Leu
XM_011511777.1:c.347A>T	XP_011510079.1:p.Gln116Leu
XM_011511778.1:c.347A>T	XP_011510080.1:p.Gln116Leu
XM_011511779.1:c.*48A>T	XP_011510081.1:n.*48A>T
XM_011511771.2:c.863A>T	XP_011510073.1:p.Gln288Leu
XM_011511777.2:c.347A>T	XP_011510079.1:p.Gln116Leu
XM_017004851.1:c.974A>T	XP_016860340.1:p.Gln325Leu
XM_017004852.1:c.761A>T	XP_016860341.1:p.Gln254Leu
XM_017004853.1:c.974A>T	XP_016860342.1:p.Gln325Leu
XM_017004854.1:c.974A>T	XP_016860343.1:p.Gln325Leu
XR_001738924.1:n.918A>T
NM_001145664.2:c.635A>T MANE Select	NP_001139136.2:p.Gln212Leu
NM_001367508.1:c.122A>T	NP_001354437.1:p.Gln41Leu
NM_001367509.1:c.122A>T	NP_001354438.1:p.Gln41Leu
NM_001367510.1:c.122A>T	NP_001354439.1:p.Gln41Leu