Canonical Allele Identifier: CA4705250
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31167074G>A , CM000670.2:g.31167074G>A GRCh38
NC_000008.10:g.31024590G>A , CM000670.1:g.31024590G>A GRCh37
NC_000008.9:g.31144132G>A NCBI36
NG_008870.1:g.138813G>A , LRG_524:g.138813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4035G>A MANE Select ENSP00000298139.5:p.Thr1345=
ENST00000650667.1:c.*3649G>A ENSP00000498593.1:n.*3649G>A
ENST00000651946.1:n.259G>A
ENST00000298139.5:c.4035G>A ENSP00000298139.5:p.Thr1345=
ENST00000521620.5:n.2668G>A
NM_000553.4:c.4035G>A , LRG_524t1:c.4035G>A NP_000544.2:p.Thr1345=
XM_011544639.1:c.3954G>A XP_011542941.1:p.Thr1318=
XM_011544640.1:c.2436G>A XP_011542942.1:p.Thr812=
XR_949470.1:n.4399G>A
XR_949471.1:n.4762G>A
XR_949472.1:n.4671G>A
XR_949643.1:n.380+4C>T
XR_949644.1:n.380+4C>T
XR_949645.1:n.380+4C>T
XR_949646.1:n.380+4C>T
XR_949647.1:n.993+4C>T
XR_949648.1:n.895+4C>T
NM_000553.5:c.4035G>A NP_000544.2:p.Thr1345=
XM_011544639.3:c.3954G>A XP_011542941.1:p.Thr1318=
XM_024447265.1:c.3825G>A XP_024303033.1:p.Thr1275=
XR_949470.3:n.4427G>A
XR_949471.3:n.4790G>A
XR_949472.3:n.4699G>A
NM_000553.6:c.4035G>A MANE Select NP_000544.2:p.Thr1345=