Canonical Allele Identifier: CA162785

Gene: WRN

Linked Data

• ClinVar Variation Id: 135445
• ClinVar RCV Id: RCV000122302 ; RCV000464655 ; RCV001753506
• dbSNP Id: rs367991517
• ExAC: 8:30924558 A / C
• gnomAD v2: 8-30924558-A-C
• gnomAD v3: 8-31067042-A-C
• gnomAD v4: 8-31067042-A-C
• MyVariant Identifiers: chr8:g.30924558A>C (hg19) ; chr8:g.31067042A>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067042A>C , CM000670.2:g.31067042A>C	GRCh38
NC_000008.10:g.30924558A>C , CM000670.1:g.30924558A>C	GRCh37
NC_000008.9:g.31044100A>C	NCBI36
NG_008870.1:g.38781A>C , LRG_524:g.38781A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.514A>C MANE Select	ENSP00000298139.5:p.Thr172Pro
ENST00000650667.1:c.*128A>C	ENSP00000498593.1:n.*128A>C
ENST00000298139.5:c.514A>C	ENSP00000298139.5:p.Thr172Pro
NM_000553.4:c.514A>C , LRG_524t1:c.514A>C	NP_000544.2:p.Thr172Pro
XM_011544639.1:c.514A>C	XP_011542941.1:p.Thr172Pro
XR_949470.1:n.787A>C
XR_949471.1:n.787A>C
XR_949472.1:n.787A>C
NM_000553.5:c.514A>C	NP_000544.2:p.Thr172Pro
XM_011544639.3:c.514A>C	XP_011542941.1:p.Thr172Pro
XM_024447265.1:c.304A>C	XP_024303033.1:p.Thr102Pro
XR_949470.3:n.815A>C
XR_949471.3:n.815A>C
XR_949472.3:n.815A>C
NM_000553.6:c.514A>C MANE Select	NP_000544.2:p.Thr172Pro