Canonical Allele Identifier: CA4705066

Gene: WRN

Linked Data

• ClinVar Variation Id: 1559443
• ClinVar RCV Id: RCV002202850
• dbSNP Id: rs781132008
• ExAC: 8:31004661 A / G
• gnomAD v2: 8-31004661-A-G
• gnomAD v3: 8-31147145-A-G
• gnomAD v4: 8-31147145-A-G
• MyVariant Identifiers: chr8:g.31004661A>G (hg19) ; chr8:g.31147145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147145A>G , CM000670.2:g.31147145A>G	GRCh38
NC_000008.10:g.31004661A>G , CM000670.1:g.31004661A>G	GRCh37
NC_000008.9:g.31124203A>G	NCBI36
NG_008870.1:g.118884A>G , LRG_524:g.118884A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3459+17A>G MANE Select	ENSP00000298139.5:n.3459+17A>G
ENST00000650667.1:c.*3073+17A>G	ENSP00000498593.1:n.*3073+17A>G
ENST00000298139.5:c.3459+17A>G	ENSP00000298139.5:n.3459+17A>G
ENST00000521620.5:n.2092+17A>G
NM_000553.4:c.3459+17A>G , LRG_524t1:c.3459+17A>G	NP_000544.2:n.3459+17A>G
XM_011544639.1:c.3378+17A>G	XP_011542941.1:n.3378+17A>G
XM_011544640.1:c.1860+17A>G	XP_011542942.1:n.1860+17A>G
XR_949470.1:n.3732+17A>G
XR_949471.1:n.3732+17A>G
XR_949472.1:n.3732+17A>G
XR_949643.1:n.614+1363T>C
NM_000553.5:c.3459+17A>G	NP_000544.2:n.3459+17A>G
XM_011544639.3:c.3378+17A>G	XP_011542941.1:n.3378+17A>G
XM_024447265.1:c.3249+17A>G	XP_024303033.1:n.3249+17A>G
XR_949470.3:n.3760+17A>G
XR_949471.3:n.3760+17A>G
XR_949472.3:n.3760+17A>G
NM_000553.6:c.3459+17A>G MANE Select	NP_000544.2:n.3459+17A>G