Canonical Allele Identifier: CA370925791

Gene: WRN

Linked Data

• ClinVar Variation Id: 966347
• ClinVar RCV Id: RCV001241004
• dbSNP Id: rs1255250156
• gnomAD v2: 8-31004919-C-T
• gnomAD v4: 8-31147403-C-T
• MyVariant Identifiers: chr8:g.31004919C>T (hg19) ; chr8:g.31147403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147403C>T , CM000670.2:g.31147403C>T	GRCh38
NC_000008.10:g.31004919C>T , CM000670.1:g.31004919C>T	GRCh37
NC_000008.9:g.31124461C>T	NCBI36
NG_008870.1:g.119142C>T , LRG_524:g.119142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3499C>T MANE Select	ENSP00000298139.5:p.His1167Tyr
ENST00000650667.1:c.*3113C>T	ENSP00000498593.1:n.*3113C>T
ENST00000298139.5:c.3499C>T	ENSP00000298139.5:p.His1167Tyr
ENST00000521620.5:n.2132C>T
NM_000553.4:c.3499C>T , LRG_524t1:c.3499C>T	NP_000544.2:p.His1167Tyr
XM_011544639.1:c.3418C>T	XP_011542941.1:p.His1140Tyr
XM_011544640.1:c.1900C>T	XP_011542942.1:p.His634Tyr
XR_949470.1:n.3772C>T
XR_949471.1:n.3772C>T
XR_949472.1:n.3772C>T
XR_949643.1:n.614+1105G>A
NM_000553.5:c.3499C>T	NP_000544.2:p.His1167Tyr
XM_011544639.3:c.3418C>T	XP_011542941.1:p.His1140Tyr
XM_024447265.1:c.3289C>T	XP_024303033.1:p.His1097Tyr
XR_949470.3:n.3800C>T
XR_949471.3:n.3800C>T
XR_949472.3:n.3800C>T
NM_000553.6:c.3499C>T MANE Select	NP_000544.2:p.His1167Tyr