Canonical Allele Identifier: CA162701

Gene: WRN

Linked Data

• ClinVar Variation Id: 135418
• ClinVar RCV Id: RCV000122274 ; RCV001367832
• dbSNP Id: rs587778747
• ExAC: 8:30948391 G / A
• gnomAD v2: 8-30948391-G-A
• gnomAD v4: 8-31090875-G-A
• MyVariant Identifiers: chr8:g.30948391G>A (hg19) ; chr8:g.31090875G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31090875G>A , CM000670.2:g.31090875G>A	GRCh38
NC_000008.10:g.30948391G>A , CM000670.1:g.30948391G>A	GRCh37
NC_000008.9:g.31067933G>A	NCBI36
NG_008870.1:g.62614G>A , LRG_524:g.62614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.1762G>A MANE Select	ENSP00000298139.5:p.Val588Ile
ENST00000650667.1:c.*1376G>A	ENSP00000498593.1:n.*1376G>A
ENST00000298139.5:c.1762G>A	ENSP00000298139.5:p.Val588Ile
ENST00000521620.5:n.395G>A
NM_000553.4:c.1762G>A , LRG_524t1:c.1762G>A	NP_000544.2:p.Val588Ile
XM_011544639.1:c.1681G>A	XP_011542941.1:p.Val561Ile
XM_011544640.1:c.163G>A	XP_011542942.1:p.Val55Ile
XR_949470.1:n.2035G>A
XR_949471.1:n.2035G>A
XR_949472.1:n.2035G>A
NM_000553.5:c.1762G>A	NP_000544.2:p.Val588Ile
XM_011544639.3:c.1681G>A	XP_011542941.1:p.Val561Ile
XM_024447265.1:c.1552G>A	XP_024303033.1:p.Val518Ile
XR_949470.3:n.2063G>A
XR_949471.3:n.2063G>A
XR_949472.3:n.2063G>A
NM_000553.6:c.1762G>A MANE Select	NP_000544.2:p.Val588Ile