Canonical Allele Identifier: CA370914444
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31064419G>C
GRCh37 chr8:g.30921935G>C
Revel Score:
ENST00000298139 (MANE Select) 0.108
gnomAD v4:
chr8-31064419-G-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV002017578
ClinVar Variation:
1501583
dbSNP:
2230009
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.340G>C MANE Select ENSP00000298139.5:p.Val114Leu
ENST00000650667.1:c.210-496G>C ENSP00000498593.1:n.210-496G>C
ENST00000298139.5:c.340G>C ENSP00000298139.5:p.Val114Leu
NM_000553.4:c.340G>C , LRG_524t1:c.340G>C NP_000544.2:p.Val114Leu
XM_011544639.1:c.340G>C XP_011542941.1:p.Val114Leu
XR_949470.1:n.613G>C
XR_949471.1:n.613G>C
XR_949472.1:n.613G>C
NM_000553.5:c.340G>C NP_000544.2:p.Val114Leu
XM_011544639.3:c.340G>C XP_011542941.1:p.Val114Leu
XM_024447265.1:c.130G>C XP_024303033.1:p.Val44Leu
XR_949470.3:n.641G>C
XR_949471.3:n.641G>C
XR_949472.3:n.641G>C
NM_000553.6:c.340G>C MANE Select NP_000544.2:p.Val114Leu
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