Canonical Allele Identifier: CA8183802

Gene: WWOX MAF

Linked Data

• ClinVar Variation Id: 506528
• ClinVar RCV Id: RCV000650211 ; RCV001722560 ; RCV001815005
• dbSNP Id: rs76204496
• ExAC: 16:79245676 G / T
• gnomAD v2: 16-79245676-G-T
• gnomAD v3: 16-79211779-G-T
• gnomAD v4: 16-79211779-G-T
• MyVariant Identifiers: chr16:g.79245676G>T (hg19) ; chr16:g.79245676_79245679delinsTGCA (hg19) ; chr16:g.79211779G>T (hg38) ; chr16:g.79211779_79211782delinsTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79211779G>T , CM000678.2:g.79211779G>T	GRCh38
NC_000016.9:g.79245676G>T , CM000678.1:g.79245676G>T	GRCh37
NC_000016.8:g.77803177G>T	NCBI36
NG_011698.1:g.1117126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683929.1:c.*342G>T (WWOX)	ENSP00000507689.1:n.*342G>T
ENST00000566780.6:c.1228G>T (WWOX) MANE Select	ENSP00000457230.1:p.Gly410Cys
ENST00000402655.6:c.581G>T (WWOX)	ENSP00000384238.2:p.Trp194Leu
ENST00000406884.6:c.688G>T (WWOX)	ENSP00000384495.2:p.Gly230Cys
ENST00000539474.6:c.*15G>T (WWOX)	ENSP00000445210.2:n.*15G>T
ENST00000566103.1:n.295G>T (WWOX)
ENST00000566780.5:c.1228G>T (WWOX)	ENSP00000457230.1:p.Gly410Cys
ENST00000569332.5:c.*1025G>T (WWOX)	ENSP00000454788.1:n.*1025G>T
NM_001291997.1:c.889G>T (WWOX)	NP_001278926.1:p.Gly297Cys
NM_016373.3:c.1228G>T (WWOX)	NP_057457.1:p.Gly410Cys
XM_011523100.1:c.1324G>T (WWOX)	XP_011521402.1:p.Gly442Cys
XM_011523103.3:c.*200G>T (WWOX)	XP_011521405.1:n.*200G>T
XM_017023279.1:c.314G>T (WWOX)	XP_016878768.1:p.Trp105Leu
XM_024450279.1:c.*1151C>A (MAF)	XP_024306047.1:n.*1151C>A
XR_001751902.2:n.4353C>A (MAF)
XR_002957802.1:n.4353C>A (MAF)
XR_002957803.1:n.4353C>A (MAF)
XR_002957804.1:n.4353C>A (MAF)
NM_016373.4:c.1228G>T (WWOX) MANE Select	NP_057457.1:p.Gly410Cys
NM_001291997.2:c.889G>T (WWOX)	NP_001278926.1:p.Gly297Cys