Canonical Allele Identifier: CA174844832
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 942304
ClinVar RCV Id: RCV001212265
dbSNP Id: rs980659335
gnomAD v4: 8-31067159-C-G
COSMIC: COSM73303

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067159C>G , CM000670.2:g.31067159C>G GRCh38
NC_000008.10:g.30924675C>G , CM000670.1:g.30924675C>G GRCh37
NC_000008.9:g.31044217C>G NCBI36
NG_008870.1:g.38898C>G , LRG_524:g.38898C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.631C>G MANE Select ENSP00000298139.5:p.Leu211Val
ENST00000650667.1:c.*245C>G ENSP00000498593.1:n.*245C>G
ENST00000298139.5:c.631C>G ENSP00000298139.5:p.Leu211Val
NM_000553.4:c.631C>G , LRG_524t1:c.631C>G NP_000544.2:p.Leu211Val
XM_011544639.1:c.631C>G XP_011542941.1:p.Leu211Val
XR_949470.1:n.904C>G
XR_949471.1:n.904C>G
XR_949472.1:n.904C>G
NM_000553.5:c.631C>G NP_000544.2:p.Leu211Val
XM_011544639.3:c.631C>G XP_011542941.1:p.Leu211Val
XM_024447265.1:c.421C>G XP_024303033.1:p.Leu141Val
XR_949470.3:n.932C>G
XR_949471.3:n.932C>G
XR_949472.3:n.932C>G
NM_000553.6:c.631C>G MANE Select NP_000544.2:p.Leu211Val