Canonical Allele Identifier: CA4705198
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31157429C>T
GRCh37 chr8:g.31014945C>T
Revel Score:
ENST00000298139 (MANE Select) 0.209
gnomAD v2:
8:31014945 C / T
gnomAD v3:
8:31157429 C / T
gnomAD v4:
chr8-31157429-C-T
Joint Max Group AF 0.00097383 (SAS)
Genomes Max Group AF 0.00054201 (SAS)
Exomes Max Group AF 0.00096435 (SAS)
ClinVar RCV:
RCV000546368
ClinVar Variation:
458471
dbSNP:
146861737
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157429C>T , CM000670.2:g.31157429C>T GRCh38
NC_000008.10:g.31014945C>T , CM000670.1:g.31014945C>T GRCh37
NC_000008.9:g.31134487C>T NCBI36
NG_008870.1:g.129168C>T , LRG_524:g.129168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3881C>T MANE Select ENSP00000298139.5:p.Ala1294Val
ENST00000650667.1:c.*3495C>T ENSP00000498593.1:n.*3495C>T
ENST00000298139.5:c.3881C>T ENSP00000298139.5:p.Ala1294Val
ENST00000521620.5:n.2514C>T
NM_000553.4:c.3881C>T , LRG_524t1:c.3881C>T NP_000544.2:p.Ala1294Val
XM_011544639.1:c.3800C>T XP_011542941.1:p.Ala1267Val
XM_011544640.1:c.2282C>T XP_011542942.1:p.Ala761Val
XR_949470.1:n.4154C>T
XR_949471.1:n.4154C>T
XR_949472.1:n.4154C>T
XR_949643.1:n.457-8764G>A
XR_949644.1:n.381-8764G>A
XR_949647.1:n.1070-8764G>A
XR_949648.1:n.972-8764G>A
NM_000553.5:c.3881C>T NP_000544.2:p.Ala1294Val
XM_011544639.3:c.3800C>T XP_011542941.1:p.Ala1267Val
XM_024447265.1:c.3671C>T XP_024303033.1:p.Ala1224Val
XR_949470.3:n.4182C>T
XR_949471.3:n.4182C>T
XR_949472.3:n.4182C>T
NM_000553.6:c.3881C>T MANE Select NP_000544.2:p.Ala1294Val
Search 100 bp 5'
Search 100 bp 3'