Canonical Allele Identifier: CA4705173
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31154714G>A , CM000670.2:g.31154714G>A GRCh38
NC_000008.10:g.31012230G>A , CM000670.1:g.31012230G>A GRCh37
NC_000008.9:g.31131772G>A NCBI36
NG_008870.1:g.126453G>A , LRG_524:g.126453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3778G>A MANE Select ENSP00000298139.5:p.Ala1260Thr
ENST00000650667.1:c.*3392G>A ENSP00000498593.1:n.*3392G>A
ENST00000298139.5:c.3778G>A ENSP00000298139.5:p.Ala1260Thr
ENST00000521620.5:n.2411G>A
NM_000553.4:c.3778G>A , LRG_524t1:c.3778G>A NP_000544.2:p.Ala1260Thr
XM_011544639.1:c.3697G>A XP_011542941.1:p.Ala1233Thr
XM_011544640.1:c.2179G>A XP_011542942.1:p.Ala727Thr
XR_949470.1:n.4051G>A
XR_949471.1:n.4051G>A
XR_949472.1:n.4051G>A
XR_949643.1:n.457-6049C>T
XR_949644.1:n.381-6049C>T
XR_949647.1:n.1070-6049C>T
XR_949648.1:n.972-6049C>T
NM_000553.5:c.3778G>A NP_000544.2:p.Ala1260Thr
XM_011544639.3:c.3697G>A XP_011542941.1:p.Ala1233Thr
XM_024447265.1:c.3568G>A XP_024303033.1:p.Ala1190Thr
XR_949470.3:n.4079G>A
XR_949471.3:n.4079G>A
XR_949472.3:n.4079G>A
NM_000553.6:c.3778G>A MANE Select NP_000544.2:p.Ala1260Thr