Canonical Allele Identifier: CA370915890

Gene: WRN

Linked Data

• ClinVar Variation Id: 458488
• ClinVar RCV Id: RCV000553387
• dbSNP Id: rs1554519269
• gnomAD v4: 8-31067051-T-C
• MyVariant Identifiers: chr8:g.30924567T>C (hg19) ; chr8:g.31067051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067051T>C , CM000670.2:g.31067051T>C	GRCh38
NC_000008.10:g.30924567T>C , CM000670.1:g.30924567T>C	GRCh37
NC_000008.9:g.31044109T>C	NCBI36
NG_008870.1:g.38790T>C , LRG_524:g.38790T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.523T>C MANE Select	ENSP00000298139.5:p.Trp175Arg
ENST00000650667.1:c.*137T>C	ENSP00000498593.1:n.*137T>C
ENST00000298139.5:c.523T>C	ENSP00000298139.5:p.Trp175Arg
NM_000553.4:c.523T>C , LRG_524t1:c.523T>C	NP_000544.2:p.Trp175Arg
XM_011544639.1:c.523T>C	XP_011542941.1:p.Trp175Arg
XR_949470.1:n.796T>C
XR_949471.1:n.796T>C
XR_949472.1:n.796T>C
NM_000553.5:c.523T>C	NP_000544.2:p.Trp175Arg
XM_011544639.3:c.523T>C	XP_011542941.1:p.Trp175Arg
XM_024447265.1:c.313T>C	XP_024303033.1:p.Trp105Arg
XR_949470.3:n.824T>C
XR_949471.3:n.824T>C
XR_949472.3:n.824T>C
NM_000553.6:c.523T>C MANE Select	NP_000544.2:p.Trp175Arg