Canonical Allele Identifier: CA162785
Gene: WRN HGNC NCBI
ClinVar RCV:
RCV000122302
RCV000464655
RCV001753506
ClinVar Variation:
135445
dbSNP:
367991517
gnomAD v2:
8:30924558 A / C
gnomAD v3:
8:31067042 A / C
gnomAD v4:
chr8-31067042-A-C
Joint Max Group AF 0.00032328 (MID)
Genomes Max Group AF 0.00008878 (AMR)
Exomes Max Group AF 0.00034139 (MID)
MyVariant.info:
GRCh38 chr8:g.31067042A>C
GRCh37 chr8:g.30924558A>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067042A>C , CM000670.2:g.31067042A>C GRCh38
NC_000008.10:g.30924558A>C , CM000670.1:g.30924558A>C GRCh37
NC_000008.9:g.31044100A>C NCBI36
NG_008870.1:g.38781A>C , LRG_524:g.38781A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.514A>C MANE Select ENSP00000298139.5:p.Thr172Pro
ENST00000650667.1:c.*128A>C ENSP00000498593.1:n.*128A>C
ENST00000298139.5:c.514A>C ENSP00000298139.5:p.Thr172Pro
NM_000553.4:c.514A>C , LRG_524t1:c.514A>C NP_000544.2:p.Thr172Pro
XM_011544639.1:c.514A>C XP_011542941.1:p.Thr172Pro
XR_949470.1:n.787A>C
XR_949471.1:n.787A>C
XR_949472.1:n.787A>C
NM_000553.5:c.514A>C NP_000544.2:p.Thr172Pro
XM_011544639.3:c.514A>C XP_011542941.1:p.Thr172Pro
XM_024447265.1:c.304A>C XP_024303033.1:p.Thr102Pro
XR_949470.3:n.815A>C
XR_949471.3:n.815A>C
XR_949472.3:n.815A>C
NM_000553.6:c.514A>C MANE Select NP_000544.2:p.Thr172Pro
Search 100 bp 5'
Search 100 bp 3'