Canonical Allele Identifier: CA156023
Gene: WRN HGNC NCBI
COSMIC:
COSM4985543 (not active)
MyVariant.info:
GRCh38 chr8:g.31064419G>A
GRCh37 chr8:g.30921935G>A
Revel Score:
ENST00000298139 (MANE Select) 0.096
gnomAD v2:
8:30921935 G / A
gnomAD v3:
8:31064419 G / A
gnomAD v4:
chr8-31064419-G-A
Joint Max Group AF 0.12405987 (AFR)
Genomes Max Group AF 0.12263493 (AFR)
Exomes Max Group AF 0.12387371 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064419G>A , CM000670.2:g.31064419G>A GRCh38
NC_000008.10:g.30921935G>A , CM000670.1:g.30921935G>A GRCh37
NC_000008.9:g.31041477G>A NCBI36
NG_008870.1:g.36158G>A , LRG_524:g.36158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.340G>A MANE Select ENSP00000298139.5:p.Val114Ile
ENST00000650667.1:c.210-496G>A ENSP00000498593.1:n.210-496G>A
ENST00000298139.5:c.340G>A ENSP00000298139.5:p.Val114Ile
NM_000553.4:c.340G>A , LRG_524t1:c.340G>A NP_000544.2:p.Val114Ile
XM_011544639.1:c.340G>A XP_011542941.1:p.Val114Ile
XR_949470.1:n.613G>A
XR_949471.1:n.613G>A
XR_949472.1:n.613G>A
NM_000553.5:c.340G>A NP_000544.2:p.Val114Ile
XM_011544639.3:c.340G>A XP_011542941.1:p.Val114Ile
XM_024447265.1:c.130G>A XP_024303033.1:p.Val44Ile
XR_949470.3:n.641G>A
XR_949471.3:n.641G>A
XR_949472.3:n.641G>A
NM_000553.6:c.340G>A MANE Select NP_000544.2:p.Val114Ile
Search 100 bp 5'
Search 100 bp 3'