Canonical Allele Identifier: CA174864405
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31088966G>A , CM000670.2:g.31088966G>A GRCh38
NC_000008.10:g.30946482G>A , CM000670.1:g.30946482G>A GRCh37
NC_000008.9:g.31066024G>A NCBI36
NG_008870.1:g.60705G>A , LRG_524:g.60705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.1652+1G>A MANE Select ENSP00000298139.5:n.1652+1G>A
ENST00000650667.1:c.*1266+1G>A ENSP00000498593.1:n.*1266+1G>A
ENST00000298139.5:c.1652+1G>A ENSP00000298139.5:n.1652+1G>A
ENST00000521620.5:n.353+1G>A
NM_000553.4:c.1652+1G>A , LRG_524t1:c.1652+1G>A NP_000544.2:n.1652+1G>A
XM_011544639.1:c.1571+1G>A XP_011542941.1:n.1571+1G>A
XM_011544640.1:c.121+1G>A XP_011542942.1:n.121+1G>A
XR_949470.1:n.1925+1G>A
XR_949471.1:n.1925+1G>A
XR_949472.1:n.1925+1G>A
NM_000553.5:c.1652+1G>A NP_000544.2:n.1652+1G>A
XM_011544639.3:c.1571+1G>A XP_011542941.1:n.1571+1G>A
XM_024447265.1:c.1442+1G>A XP_024303033.1:n.1442+1G>A
XR_949470.3:n.1953+1G>A
XR_949471.3:n.1953+1G>A
XR_949472.3:n.1953+1G>A
NM_000553.6:c.1652+1G>A MANE Select NP_000544.2:n.1652+1G>A