Canonical Allele Identifier: CA156023

Gene: WRN

Linked Data

• ClinVar Variation Id: 130760
• ClinVar RCV Id: RCV000118878 ; RCV000312662 ; RCV001668268 ; RCV003315693
• dbSNP Id: rs2230009
• ExAC: 8:30921935 G / A
• gnomAD v2: 8-30921935-G-A
• gnomAD v3: 8-31064419-G-A
• gnomAD v4: 8-31064419-G-A
• MyVariant Identifiers: chr8:g.30921935G>A (hg19) ; chr8:g.31064419G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31064419G>A , CM000670.2:g.31064419G>A	GRCh38
NC_000008.10:g.30921935G>A , CM000670.1:g.30921935G>A	GRCh37
NC_000008.9:g.31041477G>A	NCBI36
NG_008870.1:g.36158G>A , LRG_524:g.36158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.340G>A MANE Select	ENSP00000298139.5:p.Val114Ile
ENST00000650667.1:c.210-496G>A	ENSP00000498593.1:n.210-496G>A
ENST00000298139.5:c.340G>A	ENSP00000298139.5:p.Val114Ile
NM_000553.4:c.340G>A , LRG_524t1:c.340G>A	NP_000544.2:p.Val114Ile
XM_011544639.1:c.340G>A	XP_011542941.1:p.Val114Ile
XR_949470.1:n.613G>A
XR_949471.1:n.613G>A
XR_949472.1:n.613G>A
NM_000553.5:c.340G>A	NP_000544.2:p.Val114Ile
XM_011544639.3:c.340G>A	XP_011542941.1:p.Val114Ile
XM_024447265.1:c.130G>A	XP_024303033.1:p.Val44Ile
XR_949470.3:n.641G>A
XR_949471.3:n.641G>A
XR_949472.3:n.641G>A
NM_000553.6:c.340G>A MANE Select	NP_000544.2:p.Val114Ile