Canonical Allele Identifier: CA347974424

Gene: RFX8

Linked Data

• ClinVar Variation Id: 3153525
• ClinVar RCV Id: RCV004438905
• dbSNP Id: rs1425589331
• gnomAD v3: 2-101412993-T-A
• gnomAD v4: 2-101412993-T-A
• MyVariant Identifiers: chr2:g.102029455T>A (hg19) ; chr2:g.101412993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412993T>A , CM000664.2:g.101412993T>A	GRCh38
NC_000002.11:g.102029455T>A , CM000664.1:g.102029455T>A	GRCh37
NC_000002.10:g.101395887T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.979A>T	ENSP00000494249.2:p.Thr327Ser
ENST00000428343.6:c.640A>T MANE Select	ENSP00000401536.1:p.Thr214Ser
ENST00000646446.1:c.853A>T	ENSP00000494216.1:p.Thr285Ser
ENST00000646893.1:c.766A>T	ENSP00000494249.1:p.Thr256Ser
ENST00000428343.5:c.640A>T	ENSP00000401536.1:p.Thr214Ser
ENST00000481179.5:c.*356A>T	ENSP00000422968.1:n.*356A>T
NM_001145664.1:c.640A>T	NP_001139136.1:p.Thr214Ser
XM_011511771.1:c.868A>T	XP_011510073.1:p.Thr290Ser
XM_011511772.1:c.853A>T	XP_011510074.1:p.Thr285Ser
XM_011511773.1:c.550A>T	XP_011510075.1:p.Thr184Ser
XM_011511774.1:c.868A>T	XP_011510076.1:p.Thr290Ser
XM_011511775.1:c.868A>T	XP_011510077.1:p.Thr290Ser
XM_011511776.1:c.352A>T	XP_011510078.1:p.Thr118Ser
XM_011511777.1:c.352A>T	XP_011510079.1:p.Thr118Ser
XM_011511778.1:c.352A>T	XP_011510080.1:p.Thr118Ser
XM_011511779.1:c.*53A>T	XP_011510081.1:n.*53A>T
XM_011511771.2:c.868A>T	XP_011510073.1:p.Thr290Ser
XM_011511777.2:c.352A>T	XP_011510079.1:p.Thr118Ser
XM_017004851.1:c.979A>T	XP_016860340.1:p.Thr327Ser
XM_017004852.1:c.766A>T	XP_016860341.1:p.Thr256Ser
XM_017004853.1:c.979A>T	XP_016860342.1:p.Thr327Ser
XM_017004854.1:c.979A>T	XP_016860343.1:p.Thr327Ser
XR_001738924.1:n.923A>T
NM_001145664.2:c.640A>T MANE Select	NP_001139136.2:p.Thr214Ser
NM_001367508.1:c.127A>T	NP_001354437.1:p.Thr43Ser
NM_001367509.1:c.127A>T	NP_001354438.1:p.Thr43Ser
NM_001367510.1:c.127A>T	NP_001354439.1:p.Thr43Ser