Canonical Allele Identifier: CA370915941

Gene: WRN

Linked Data

• ClinVar Variation Id: 1003124
• ClinVar RCV Id: RCV001299641
• dbSNP Id: rs1812735120
• MyVariant Identifiers: chr8:g.30924576A>G (hg19) ; chr8:g.31067060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067060A>G , CM000670.2:g.31067060A>G	GRCh38
NC_000008.10:g.30924576A>G , CM000670.1:g.30924576A>G	GRCh37
NC_000008.9:g.31044118A>G	NCBI36
NG_008870.1:g.38799A>G , LRG_524:g.38799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.532A>G MANE Select	ENSP00000298139.5:p.Asn178Asp
ENST00000650667.1:c.*146A>G	ENSP00000498593.1:n.*146A>G
ENST00000298139.5:c.532A>G	ENSP00000298139.5:p.Asn178Asp
NM_000553.4:c.532A>G , LRG_524t1:c.532A>G	NP_000544.2:p.Asn178Asp
XM_011544639.1:c.532A>G	XP_011542941.1:p.Asn178Asp
XR_949470.1:n.805A>G
XR_949471.1:n.805A>G
XR_949472.1:n.805A>G
NM_000553.5:c.532A>G	NP_000544.2:p.Asn178Asp
XM_011544639.3:c.532A>G	XP_011542941.1:p.Asn178Asp
XM_024447265.1:c.322A>G	XP_024303033.1:p.Asn108Asp
XR_949470.3:n.833A>G
XR_949471.3:n.833A>G
XR_949472.3:n.833A>G
NM_000553.6:c.532A>G MANE Select	NP_000544.2:p.Asn178Asp