Canonical Allele Identifier: CA4704341
Gene: WRN HGNC NCBI
COSMIC:
COSM278143
MyVariant.info:
GRCh38 chr8:g.31085193G>A
GRCh37 chr8:g.30942709G>A
Revel Score:
ENST00000298139 (MANE Select) 0.127
gnomAD v2:
8:30942709 G / A
gnomAD v3:
8:31085193 G / A
gnomAD v4:
chr8-31085193-G-A
Joint Max Group AF 0.00179243 (SAS)
Genomes Max Group AF 0.00068388 (SAS)
Exomes Max Group AF 0.00181582 (SAS)
ClinVar Allele:
458359
ClinVar RCV:
RCV000551303
RCV003316686
RCV003942745
ClinVar Variation:
458382
dbSNP:
556958354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31085193G>A , CM000670.2:g.31085193G>A GRCh38
NC_000008.10:g.30942709G>A , CM000670.1:g.30942709G>A GRCh37
NC_000008.9:g.31062251G>A NCBI36
NG_008870.1:g.56932G>A , LRG_524:g.56932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.1378G>A MANE Select ENSP00000298139.5:p.Asp460Asn
ENST00000650667.1:c.*992G>A ENSP00000498593.1:n.*992G>A
ENST00000651642.1:c.592G>A ENSP00000498779.1:p.Asp198Asn
ENST00000298139.5:c.1378G>A ENSP00000298139.5:p.Asp460Asn
NM_000553.4:c.1378G>A , LRG_524t1:c.1378G>A NP_000544.2:p.Asp460Asn
XM_011544639.1:c.1350+1414G>A XP_011542941.1:n.1350+1414G>A
XR_949470.1:n.1651G>A
XR_949471.1:n.1651G>A
XR_949472.1:n.1651G>A
NM_000553.5:c.1378G>A NP_000544.2:p.Asp460Asn
XM_011544639.3:c.1350+1414G>A XP_011542941.1:n.1350+1414G>A
XM_024447265.1:c.1168G>A XP_024303033.1:p.Asp390Asn
XR_949470.3:n.1679G>A
XR_949471.3:n.1679G>A
XR_949472.3:n.1679G>A
NM_000553.6:c.1378G>A MANE Select NP_000544.2:p.Asp460Asn
Search 100 bp 5'
Search 100 bp 3'