Canonical Allele Identifier: CA4705062
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147122G>A , CM000670.2:g.31147122G>A GRCh38
NC_000008.10:g.31004638G>A , CM000670.1:g.31004638G>A GRCh37
NC_000008.9:g.31124180G>A NCBI36
NG_008870.1:g.118861G>A , LRG_524:g.118861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3453G>A MANE Select ENSP00000298139.5:p.Glu1151=
ENST00000650667.1:c.*3067G>A ENSP00000498593.1:n.*3067G>A
ENST00000298139.5:c.3453G>A ENSP00000298139.5:p.Glu1151=
ENST00000521620.5:n.2086G>A
NM_000553.4:c.3453G>A , LRG_524t1:c.3453G>A NP_000544.2:p.Glu1151=
XM_011544639.1:c.3372G>A XP_011542941.1:p.Glu1124=
XM_011544640.1:c.1854G>A XP_011542942.1:p.Glu618=
XR_949470.1:n.3726G>A
XR_949471.1:n.3726G>A
XR_949472.1:n.3726G>A
XR_949643.1:n.614+1386C>T
NM_000553.5:c.3453G>A NP_000544.2:p.Glu1151=
XM_011544639.3:c.3372G>A XP_011542941.1:p.Glu1124=
XM_024447265.1:c.3243G>A XP_024303033.1:p.Glu1081=
XR_949470.3:n.3754G>A
XR_949471.3:n.3754G>A
XR_949472.3:n.3754G>A
NM_000553.6:c.3453G>A MANE Select NP_000544.2:p.Glu1151=