Canonical Allele Identifier: CA1139660435
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 946862
ClinVar RCV Id: RCV001217813
dbSNP Id: rs781501590
gnomAD v4: 8-31147134-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147134G>A , CM000670.2:g.31147134G>A GRCh38
NC_000008.10:g.31004650G>A , CM000670.1:g.31004650G>A GRCh37
NC_000008.9:g.31124192G>A NCBI36
NG_008870.1:g.118873G>A , LRG_524:g.118873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3459+6G>A MANE Select ENSP00000298139.5:n.3459+6G>A
ENST00000650667.1:c.*3073+6G>A ENSP00000498593.1:n.*3073+6G>A
ENST00000298139.5:c.3459+6G>A ENSP00000298139.5:n.3459+6G>A
ENST00000521620.5:n.2092+6G>A
NM_000553.4:c.3459+6G>A , LRG_524t1:c.3459+6G>A NP_000544.2:n.3459+6G>A
XM_011544639.1:c.3378+6G>A XP_011542941.1:n.3378+6G>A
XM_011544640.1:c.1860+6G>A XP_011542942.1:n.1860+6G>A
XR_949470.1:n.3732+6G>A
XR_949471.1:n.3732+6G>A
XR_949472.1:n.3732+6G>A
XR_949643.1:n.614+1374C>T
NM_000553.5:c.3459+6G>A NP_000544.2:n.3459+6G>A
XM_011544639.3:c.3378+6G>A XP_011542941.1:n.3378+6G>A
XM_024447265.1:c.3249+6G>A XP_024303033.1:n.3249+6G>A
XR_949470.3:n.3760+6G>A
XR_949471.3:n.3760+6G>A
XR_949472.3:n.3760+6G>A
NM_000553.6:c.3459+6G>A MANE Select NP_000544.2:n.3459+6G>A