Canonical Allele Identifier: CA162797

Gene: WRN

Linked Data

• ClinVar Variation Id: 135449
• ClinVar RCV Id: RCV000122306 ; RCV000231527 ; RCV001269485 ; RCV001579808 ; RCV003315788
• dbSNP Id: rs1800390
• ExAC: 8:30938513 A / G
• gnomAD v2: 8-30938513-A-G
• gnomAD v3: 8-31080997-A-G
• gnomAD v4: 8-31080997-A-G
• MyVariant Identifiers: chr8:g.30938513A>G (hg19) ; chr8:g.31080997A>G (hg38)
• PubMed: PMID:23891399 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31080997A>G , CM000670.2:g.31080997A>G	GRCh38
NC_000008.10:g.30938513A>G , CM000670.1:g.30938513A>G	GRCh37
NC_000008.9:g.31058055A>G	NCBI36
NG_008870.1:g.52736A>G , LRG_524:g.52736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.970A>G MANE Select	ENSP00000298139.5:p.Thr324Ala
ENST00000650667.1:c.*584A>G	ENSP00000498593.1:n.*584A>G
ENST00000651642.1:c.265A>G	ENSP00000498779.1:p.Thr89Ala
ENST00000298139.5:c.970A>G	ENSP00000298139.5:p.Thr324Ala
NM_000553.4:c.970A>G , LRG_524t1:c.970A>G	NP_000544.2:p.Thr324Ala
XM_011544639.1:c.970A>G	XP_011542941.1:p.Thr324Ala
XR_949470.1:n.1243A>G
XR_949471.1:n.1243A>G
XR_949472.1:n.1243A>G
NM_000553.5:c.970A>G	NP_000544.2:p.Thr324Ala
XM_011544639.3:c.970A>G	XP_011542941.1:p.Thr324Ala
XM_024447265.1:c.760A>G	XP_024303033.1:p.Thr254Ala
XR_949470.3:n.1271A>G
XR_949471.3:n.1271A>G
XR_949472.3:n.1271A>G
NM_000553.6:c.970A>G MANE Select	NP_000544.2:p.Thr324Ala