Canonical Allele Identifier: CA4704114
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1437868
ClinVar RCV Id: RCV001957699
dbSNP Id: rs756966886
gnomAD v2: 8-30924679-A-G
gnomAD v3: 8-31067163-A-G
gnomAD v4: 8-31067163-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067163A>G , CM000670.2:g.31067163A>G GRCh38
NC_000008.10:g.30924679A>G , CM000670.1:g.30924679A>G GRCh37
NC_000008.9:g.31044221A>G NCBI36
NG_008870.1:g.38902A>G , LRG_524:g.38902A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.635A>G MANE Select ENSP00000298139.5:p.Tyr212Cys
ENST00000650667.1:c.*249A>G ENSP00000498593.1:n.*249A>G
ENST00000298139.5:c.635A>G ENSP00000298139.5:p.Tyr212Cys
NM_000553.4:c.635A>G , LRG_524t1:c.635A>G NP_000544.2:p.Tyr212Cys
XM_011544639.1:c.635A>G XP_011542941.1:p.Tyr212Cys
XR_949470.1:n.908A>G
XR_949471.1:n.908A>G
XR_949472.1:n.908A>G
NM_000553.5:c.635A>G NP_000544.2:p.Tyr212Cys
XM_011544639.3:c.635A>G XP_011542941.1:p.Tyr212Cys
XM_024447265.1:c.425A>G XP_024303033.1:p.Tyr142Cys
XR_949470.3:n.936A>G
XR_949471.3:n.936A>G
XR_949472.3:n.936A>G
NM_000553.6:c.635A>G MANE Select NP_000544.2:p.Tyr212Cys