Canonical Allele Identifier: CA4704723
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31116418G>A
GRCh37 chr8:g.30973934G>A
Revel Score:
ENST00000298139 (MANE Select) 0.164
gnomAD v2:
8:30973934 G / A
gnomAD v3:
8:31116418 G / A
gnomAD v4:
chr8-31116418-G-A
Joint Max Group AF 0.00366889 (SAS)
Genomes Max Group AF 0.00430342 (SAS)
Exomes Max Group AF 0.00355244 (SAS)
ClinVar RCV:
RCV001163334
RCV001572660
ClinVar Variation:
528204
dbSNP:
574787451
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31116418G>A , CM000670.2:g.31116418G>A GRCh38
NC_000008.10:g.30973934G>A , CM000670.1:g.30973934G>A GRCh37
NC_000008.9:g.31093476G>A NCBI36
NG_008870.1:g.88157G>A , LRG_524:g.88157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2338G>A MANE Select ENSP00000298139.5:p.Val780Ile
ENST00000650667.1:c.*1952G>A ENSP00000498593.1:n.*1952G>A
ENST00000298139.5:c.2338G>A ENSP00000298139.5:p.Val780Ile
ENST00000521620.5:n.971G>A
NM_000553.4:c.2338G>A , LRG_524t1:c.2338G>A NP_000544.2:p.Val780Ile
XM_011544639.1:c.2257G>A XP_011542941.1:p.Val753Ile
XM_011544640.1:c.739G>A XP_011542942.1:p.Val247Ile
XR_949470.1:n.2611G>A
XR_949471.1:n.2611G>A
XR_949472.1:n.2611G>A
NM_000553.5:c.2338G>A NP_000544.2:p.Val780Ile
XM_011544639.3:c.2257G>A XP_011542941.1:p.Val753Ile
XM_024447265.1:c.2128G>A XP_024303033.1:p.Val710Ile
XR_949470.3:n.2639G>A
XR_949471.3:n.2639G>A
XR_949472.3:n.2639G>A
NM_000553.6:c.2338G>A MANE Select NP_000544.2:p.Val780Ile
Search 100 bp 5'
Search 100 bp 3'