Canonical Allele Identifier: CA1806426

Gene: RFX8

Linked Data

• ClinVar Variation Id: 2522643
• ClinVar RCV Id: RCV004297770
• dbSNP Id: rs766734511
• ExAC: 2:102029410 C / T
• gnomAD v2: 2-102029410-C-T
• gnomAD v3: 2-101412948-C-T
• gnomAD v4: 2-101412948-C-T
• COSMIC: COSM5549583 ; COSM5549584
• MyVariant Identifiers: chr2:g.102029410C>T (hg19) ; chr2:g.101412948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412948C>T , CM000664.2:g.101412948C>T	GRCh38
NC_000002.11:g.102029410C>T , CM000664.1:g.102029410C>T	GRCh37
NC_000002.10:g.101395842C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1024G>A	ENSP00000494249.2:p.Ala342Thr
ENST00000428343.6:c.685G>A MANE Select	ENSP00000401536.1:p.Ala229Thr
ENST00000646446.1:c.898G>A	ENSP00000494216.1:p.Ala300Thr
ENST00000646893.1:c.811G>A	ENSP00000494249.1:p.Ala271Thr
ENST00000428343.5:c.685G>A	ENSP00000401536.1:p.Ala229Thr
ENST00000481179.5:c.*401G>A	ENSP00000422968.1:n.*401G>A
NM_001145664.1:c.685G>A	NP_001139136.1:p.Ala229Thr
XM_011511771.1:c.913G>A	XP_011510073.1:p.Ala305Thr
XM_011511772.1:c.898G>A	XP_011510074.1:p.Ala300Thr
XM_011511773.1:c.595G>A	XP_011510075.1:p.Ala199Thr
XM_011511774.1:c.913G>A	XP_011510076.1:p.Ala305Thr
XM_011511775.1:c.913G>A	XP_011510077.1:p.Ala305Thr
XM_011511776.1:c.397G>A	XP_011510078.1:p.Ala133Thr
XM_011511777.1:c.397G>A	XP_011510079.1:p.Ala133Thr
XM_011511778.1:c.397G>A	XP_011510080.1:p.Ala133Thr
XM_011511779.1:c.*98G>A	XP_011510081.1:n.*98G>A
XM_011511771.2:c.913G>A	XP_011510073.1:p.Ala305Thr
XM_011511777.2:c.397G>A	XP_011510079.1:p.Ala133Thr
XM_017004851.1:c.1024G>A	XP_016860340.1:p.Ala342Thr
XM_017004852.1:c.811G>A	XP_016860341.1:p.Ala271Thr
XM_017004853.1:c.1024G>A	XP_016860342.1:p.Ala342Thr
XM_017004854.1:c.1024G>A	XP_016860343.1:p.Ala342Thr
XR_001738924.1:n.968G>A
NM_001145664.2:c.685G>A MANE Select	NP_001139136.2:p.Ala229Thr
NM_001367508.1:c.172G>A	NP_001354437.1:p.Ala58Thr
NM_001367509.1:c.172G>A	NP_001354438.1:p.Ala58Thr
NM_001367510.1:c.172G>A	NP_001354439.1:p.Ala58Thr