Canonical Allele Identifier: CA8183444

Gene: WWOX

Linked Data

• ClinVar Variation Id: 284393
• ClinVar RCV Id: RCV000413095 ; RCV001385286 ; RCV002518924
• dbSNP Id: rs368928190
• ExAC: 16:78458910 C / G
• gnomAD v2: 16-78458910-C-G
• gnomAD v3: 16-78425013-C-G
• gnomAD v4: 16-78425013-C-G
• MyVariant Identifiers: chr16:g.78458910C>G (hg19) ; chr16:g.78425013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.78425013C>G , CM000678.2:g.78425013C>G	GRCh38
NC_000016.9:g.78458910C>G , CM000678.1:g.78458910C>G	GRCh37
NC_000016.8:g.77016411C>G	NCBI36
NG_011698.1:g.330360C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627394.3:c.749C>G	ENSP00000485925.2:p.Ser250Ter
ENST00000683929.1:c.749C>G	ENSP00000507689.1:p.Ser250Ter
ENST00000684632.1:n.1128C>G
ENST00000566780.6:c.749C>G MANE Select	ENSP00000457230.1:p.Ser250Ter
ENST00000402655.6:c.409+309859C>G	ENSP00000384238.2:n.409+309859C>G
ENST00000406884.6:c.516+260724C>G	ENSP00000384495.2:n.516+260724C>G
ENST00000408984.7:c.749C>G	ENSP00000386161.3:p.Ser250Ter
ENST00000539474.6:c.409+309859C>G	ENSP00000445210.2:n.409+309859C>G
ENST00000562639.5:n.437C>G
ENST00000566780.5:c.749C>G	ENSP00000457230.1:p.Ser250Ter
ENST00000569332.5:c.*546C>G	ENSP00000454788.1:n.*546C>G
ENST00000620008.1:c.143C>G	ENSP00000482648.1:p.Ser48Ter
NM_001291997.1:c.410C>G	NP_001278926.1:p.Ser137Ter
NM_016373.3:c.749C>G	NP_057457.1:p.Ser250Ter
XM_006721195.2:c.749C>G	XP_006721258.1:p.Ser250Ter
XM_011523100.1:c.749C>G	XP_011521402.1:p.Ser250Ter
XM_011523101.1:c.749C>G	XP_011521403.1:p.Ser250Ter
XM_011523102.1:c.749C>G	XP_011521404.1:p.Ser250Ter
XM_011523103.1:c.749C>G	XP_011521405.1:p.Ser250Ter
XM_011523104.1:c.749C>G	XP_011521406.1:p.Ser250Ter
XR_933765.1:n.3806+5413G>C
XM_011523101.3:c.749C>G	XP_011521403.1:p.Ser250Ter
XM_011523103.3:c.749C>G	XP_011521405.1:p.Ser250Ter
XM_011523104.3:c.749C>G	XP_011521406.1:p.Ser250Ter
NM_016373.4:c.749C>G MANE Select	NP_057457.1:p.Ser250Ter
NM_001291997.2:c.410C>G	NP_001278926.1:p.Ser137Ter