Canonical Allele Identifier: CA370925792

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31004920A>C (hg19) ; chr8:g.31147404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147404A>C , CM000670.2:g.31147404A>C	GRCh38
NC_000008.10:g.31004920A>C , CM000670.1:g.31004920A>C	GRCh37
NC_000008.9:g.31124462A>C	NCBI36
NG_008870.1:g.119143A>C , LRG_524:g.119143A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3500A>C MANE Select	ENSP00000298139.5:p.His1167Pro
ENST00000650667.1:c.*3114A>C	ENSP00000498593.1:n.*3114A>C
ENST00000298139.5:c.3500A>C	ENSP00000298139.5:p.His1167Pro
ENST00000521620.5:n.2133A>C
NM_000553.4:c.3500A>C , LRG_524t1:c.3500A>C	NP_000544.2:p.His1167Pro
XM_011544639.1:c.3419A>C	XP_011542941.1:p.His1140Pro
XM_011544640.1:c.1901A>C	XP_011542942.1:p.His634Pro
XR_949470.1:n.3773A>C
XR_949471.1:n.3773A>C
XR_949472.1:n.3773A>C
XR_949643.1:n.614+1104T>G
NM_000553.5:c.3500A>C	NP_000544.2:p.His1167Pro
XM_011544639.3:c.3419A>C	XP_011542941.1:p.His1140Pro
XM_024447265.1:c.3290A>C	XP_024303033.1:p.His1097Pro
XR_949470.3:n.3801A>C
XR_949471.3:n.3801A>C
XR_949472.3:n.3801A>C
NM_000553.6:c.3500A>C MANE Select	NP_000544.2:p.His1167Pro