Canonical Allele Identifier: CA370914384
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064406T>A , CM000670.2:g.31064406T>A GRCh38
NC_000008.10:g.30921922T>A , CM000670.1:g.30921922T>A GRCh37
NC_000008.9:g.31041464T>A NCBI36
NG_008870.1:g.36145T>A , LRG_524:g.36145T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.327T>A MANE Select ENSP00000298139.5:p.Cys109Ter
ENST00000650667.1:c.210-509T>A ENSP00000498593.1:n.210-509T>A
ENST00000298139.5:c.327T>A ENSP00000298139.5:p.Cys109Ter
NM_000553.4:c.327T>A , LRG_524t1:c.327T>A NP_000544.2:p.Cys109Ter
XM_011544639.1:c.327T>A XP_011542941.1:p.Cys109Ter
XR_949470.1:n.600T>A
XR_949471.1:n.600T>A
XR_949472.1:n.600T>A
NM_000553.5:c.327T>A NP_000544.2:p.Cys109Ter
XM_011544639.3:c.327T>A XP_011542941.1:p.Cys109Ter
XM_024447265.1:c.117T>A XP_024303033.1:p.Cys39Ter
XR_949470.3:n.628T>A
XR_949471.3:n.628T>A
XR_949472.3:n.628T>A
NM_000553.6:c.327T>A MANE Select NP_000544.2:p.Cys109Ter