Canonical Allele Identifier: CA4705071

Gene: WRN

Linked Data

• dbSNP Id: rs527437222
• ExAC: 8:31004684 T / C
• gnomAD v2: 8-31004684-T-C
• gnomAD v4: 8-31147168-T-C
• MyVariant Identifiers: chr8:g.31004684T>C (hg19) ; chr8:g.31147168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147168T>C , CM000670.2:g.31147168T>C	GRCh38
NC_000008.10:g.31004684T>C , CM000670.1:g.31004684T>C	GRCh37
NC_000008.9:g.31124226T>C	NCBI36
NG_008870.1:g.118907T>C , LRG_524:g.118907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3459+40T>C MANE Select	ENSP00000298139.5:n.3459+40T>C
ENST00000650667.1:c.*3073+40T>C	ENSP00000498593.1:n.*3073+40T>C
ENST00000298139.5:c.3459+40T>C	ENSP00000298139.5:n.3459+40T>C
ENST00000521620.5:n.2092+40T>C
NM_000553.4:c.3459+40T>C , LRG_524t1:c.3459+40T>C	NP_000544.2:n.3459+40T>C
XM_011544639.1:c.3378+40T>C	XP_011542941.1:n.3378+40T>C
XM_011544640.1:c.1860+40T>C	XP_011542942.1:n.1860+40T>C
XR_949470.1:n.3732+40T>C
XR_949471.1:n.3732+40T>C
XR_949472.1:n.3732+40T>C
XR_949643.1:n.614+1340A>G
NM_000553.5:c.3459+40T>C	NP_000544.2:n.3459+40T>C
XM_011544639.3:c.3378+40T>C	XP_011542941.1:n.3378+40T>C
XM_024447265.1:c.3249+40T>C	XP_024303033.1:n.3249+40T>C
XR_949470.3:n.3760+40T>C
XR_949471.3:n.3760+40T>C
XR_949472.3:n.3760+40T>C
NM_000553.6:c.3459+40T>C MANE Select	NP_000544.2:n.3459+40T>C