Canonical Allele Identifier: CA8183896
Gene: WWOX HGNC NCBI
MAF HGNC NCBI
COSMIC:
COSM3999941 (not active)
MyVariant.info:
GRCh38 chr16:g.79212064T>C
GRCh37 chr16:g.79245961T>C
Revel Score:
ENST00000402655 0.010
ENST00000299644 0.010
gnomAD v2:
16:79245961 T / C
gnomAD v3:
16:79212064 T / C
gnomAD v4:
chr16-79212064-T-C
Joint Max Group AF 0.64189147 (NFE)
Genomes Max Group AF 0.63127805 (NFE)
Exomes Max Group AF 0.6422816 (NFE)
ClinVar RCV:
RCV001648996
ClinVar Variation:
1244788
dbSNP:
2288033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.79212064T>C , CM000678.2:g.79212064T>C GRCh38
NC_000016.9:g.79245961T>C , CM000678.1:g.79245961T>C GRCh37
NC_000016.8:g.77803462T>C NCBI36
NG_011698.1:g.1117411T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683929.1:c.*627T>C (WWOX) ENSP00000507689.1:n.*627T>C
ENST00000566780.6:c.*268T>C (WWOX) MANE Select ENSP00000457230.1:n.*268T>C
ENST00000402655.6:c.866T>C (WWOX) ENSP00000384238.2:p.Val289Ala
ENST00000406884.6:c.*268T>C (WWOX) ENSP00000384495.2:n.*268T>C
ENST00000539474.6:c.*300T>C (WWOX) ENSP00000445210.2:n.*300T>C
ENST00000566103.1:n.580T>C (WWOX)
ENST00000566780.5:c.*268T>C (WWOX) ENSP00000457230.1:n.*268T>C
ENST00000569332.5:c.*1310T>C (WWOX) ENSP00000454788.1:n.*1310T>C
NM_001291997.1:c.*268T>C (WWOX) NP_001278926.1:n.*268T>C
NM_016373.3:c.*268T>C (WWOX) NP_057457.1:n.*268T>C
XM_011523100.1:c.*268T>C (WWOX) XP_011521402.1:n.*268T>C
XM_011523103.3:c.*485T>C (WWOX) XP_011521405.1:n.*485T>C
XM_017023279.1:c.599T>C (WWOX) XP_016878768.1:p.Val200Ala
XM_024450279.1:c.*866A>G (MAF) XP_024306047.1:n.*866A>G
XR_001751902.2:n.4068A>G (MAF)
XR_002957802.1:n.4068A>G (MAF)
XR_002957803.1:n.4068A>G (MAF)
XR_002957804.1:n.4068A>G (MAF)
NM_016373.4:c.*268T>C (WWOX) MANE Select NP_057457.1:n.*268T>C
NM_001291997.2:c.*268T>C (WWOX) NP_001278926.1:n.*268T>C
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