Canonical Allele Identifier: CA162713
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 135422
dbSNP Id: rs186693124
gnomAD v2: 8-30969207-A-G
gnomAD v3: 8-31111691-A-G
gnomAD v4: 8-31111691-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111691A>G , CM000670.2:g.31111691A>G GRCh38
NC_000008.10:g.30969207A>G , CM000670.1:g.30969207A>G GRCh37
NC_000008.9:g.31088749A>G NCBI36
NG_008870.1:g.83430A>G , LRG_524:g.83430A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.2165A>G MANE Select ENSP00000298139.5:p.Asn722Ser
ENST00000650667.1:c.*1779A>G ENSP00000498593.1:n.*1779A>G
ENST00000298139.5:c.2165A>G ENSP00000298139.5:p.Asn722Ser
ENST00000521620.5:n.798A>G
NM_000553.4:c.2165A>G , LRG_524t1:c.2165A>G NP_000544.2:p.Asn722Ser
XM_011544639.1:c.2084A>G XP_011542941.1:p.Asn695Ser
XM_011544640.1:c.566A>G XP_011542942.1:p.Asn189Ser
XR_949470.1:n.2438A>G
XR_949471.1:n.2438A>G
XR_949472.1:n.2438A>G
NM_000553.5:c.2165A>G NP_000544.2:p.Asn722Ser
XM_011544639.3:c.2084A>G XP_011542941.1:p.Asn695Ser
XM_024447265.1:c.1955A>G XP_024303033.1:p.Asn652Ser
XR_949470.3:n.2466A>G
XR_949471.3:n.2466A>G
XR_949472.3:n.2466A>G
NM_000553.6:c.2165A>G MANE Select NP_000544.2:p.Asn722Ser