Canonical Allele Identifier: CA8183779

Gene: WWOX MAF

Linked Data

• ClinVar Variation Id: 567630
• ClinVar RCV Id: RCV000687773 ; RCV002473105
• dbSNP Id: rs767286260
• ExAC: 16:79245628 G / A
• gnomAD v2: 16-79245628-G-A
• gnomAD v3: 16-79211731-G-A
• gnomAD v4: 16-79211731-G-A
• COSMIC: COSM3377995 ; COSM3377996
• MyVariant Identifiers: chr16:g.79245628G>A (hg19) ; chr16:g.79211731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79211731G>A , CM000678.2:g.79211731G>A	GRCh38
NC_000016.9:g.79245628G>A , CM000678.1:g.79245628G>A	GRCh37
NC_000016.8:g.77803129G>A	NCBI36
NG_011698.1:g.1117078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683929.1:c.*294G>A (WWOX)	ENSP00000507689.1:n.*294G>A
ENST00000566780.6:c.1180G>A (WWOX) MANE Select	ENSP00000457230.1:p.Ala394Thr
ENST00000402655.6:c.533G>A (WWOX)	ENSP00000384238.2:p.Gly178Asp
ENST00000406884.6:c.640G>A (WWOX)	ENSP00000384495.2:p.Ala214Thr
ENST00000539474.6:c.609G>A (WWOX)	ENSP00000445210.2:p.Arg203=
ENST00000566103.1:n.247G>A (WWOX)
ENST00000566780.5:c.1180G>A (WWOX)	ENSP00000457230.1:p.Ala394Thr
ENST00000569332.5:c.*977G>A (WWOX)	ENSP00000454788.1:n.*977G>A
NM_001291997.1:c.841G>A (WWOX)	NP_001278926.1:p.Ala281Thr
NM_016373.3:c.1180G>A (WWOX)	NP_057457.1:p.Ala394Thr
XM_011523100.1:c.1276G>A (WWOX)	XP_011521402.1:p.Ala426Thr
XM_011523103.3:c.*152G>A (WWOX)	XP_011521405.1:n.*152G>A
XM_017023279.1:c.266G>A (WWOX)	XP_016878768.1:p.Gly89Asp
XM_024450279.1:c.*1199C>T (MAF)	XP_024306047.1:n.*1199C>T
XR_001751902.2:n.4401C>T (MAF)
XR_002957802.1:n.4401C>T (MAF)
XR_002957803.1:n.4401C>T (MAF)
XR_002957804.1:n.4401C>T (MAF)
NM_016373.4:c.1180G>A (WWOX) MANE Select	NP_057457.1:p.Ala394Thr
NM_001291997.2:c.841G>A (WWOX)	NP_001278926.1:p.Ala281Thr