Canonical Allele Identifier: CA8183730

Gene: WWOX MAF

Linked Data

• ClinVar Variation Id: 540230
• ClinVar RCV Id: RCV000650198 ; RCV003162977
• dbSNP Id: rs200019508
• ExAC: 16:79245526 G / A
• gnomAD v2: 16-79245526-G-A
• gnomAD v3: 16-79211629-G-A
• gnomAD v4: 16-79211629-G-A
• MyVariant Identifiers: chr16:g.79245526G>A (hg19) ; chr16:g.79211629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79211629G>A , CM000678.2:g.79211629G>A	GRCh38
NC_000016.9:g.79245526G>A , CM000678.1:g.79245526G>A	GRCh37
NC_000016.8:g.77803027G>A	NCBI36
NG_011698.1:g.1116976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683929.1:c.*192G>A (WWOX)	ENSP00000507689.1:n.*192G>A
ENST00000566780.6:c.1078G>A (WWOX) MANE Select	ENSP00000457230.1:p.Val360Met
ENST00000402655.6:c.431G>A (WWOX)	ENSP00000384238.2:p.Arg144His
ENST00000406884.6:c.538G>A (WWOX)	ENSP00000384495.2:p.Val180Met
ENST00000539474.6:c.507G>A (WWOX)	ENSP00000445210.2:p.Pro169=
ENST00000566103.1:n.145G>A (WWOX)
ENST00000566780.5:c.1078G>A (WWOX)	ENSP00000457230.1:p.Val360Met
ENST00000569332.5:c.*875G>A (WWOX)	ENSP00000454788.1:n.*875G>A
NM_001291997.1:c.739G>A (WWOX)	NP_001278926.1:p.Val247Met
NM_016373.3:c.1078G>A (WWOX)	NP_057457.1:p.Val360Met
XM_011523100.1:c.1174G>A (WWOX)	XP_011521402.1:p.Val392Met
XM_011523103.1:c.*50G>A (WWOX)	XP_011521405.1:n.*50G>A
XM_011523103.3:c.*50G>A (WWOX)	XP_011521405.1:n.*50G>A
XM_017023279.1:c.164G>A (WWOX)	XP_016878768.1:p.Arg55His
XM_024450279.1:c.*1301C>T (MAF)	XP_024306047.1:n.*1301C>T
XR_001751902.2:n.4503C>T (MAF)
XR_002957802.1:n.4503C>T (MAF)
XR_002957803.1:n.4503C>T (MAF)
XR_002957804.1:n.4503C>T (MAF)
NM_016373.4:c.1078G>A (WWOX) MANE Select	NP_057457.1:p.Val360Met
NM_001291997.2:c.739G>A (WWOX)	NP_001278926.1:p.Val247Met