Canonical Allele Identifier: CA162770

Gene: WRN

Linked Data

• ClinVar Variation Id: 135440
• ClinVar RCV Id: RCV000122297 ; RCV000234534 ; RCV001550970 ; RCV003315786
• dbSNP Id: rs11574395
• ExAC: 8:31024570 G / A
• gnomAD v2: 8-31024570-G-A
• gnomAD v3: 8-31167054-G-A
• gnomAD v4: 8-31167054-G-A
• MyVariant Identifiers: chr8:g.31024570G>A (hg19) ; chr8:g.31167054G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31167054G>A , CM000670.2:g.31167054G>A	GRCh38
NC_000008.10:g.31024570G>A , CM000670.1:g.31024570G>A	GRCh37
NC_000008.9:g.31144112G>A	NCBI36
NG_008870.1:g.138793G>A , LRG_524:g.138793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4015G>A MANE Select	ENSP00000298139.5:p.Val1339Ile
ENST00000650667.1:c.*3629G>A	ENSP00000498593.1:n.*3629G>A
ENST00000651946.1:n.239G>A
ENST00000298139.5:c.4015G>A	ENSP00000298139.5:p.Val1339Ile
ENST00000521620.5:n.2648G>A
NM_000553.4:c.4015G>A , LRG_524t1:c.4015G>A	NP_000544.2:p.Val1339Ile
XM_011544639.1:c.3934G>A	XP_011542941.1:p.Val1312Ile
XM_011544640.1:c.2416G>A	XP_011542942.1:p.Val806Ile
XR_949470.1:n.4379G>A
XR_949471.1:n.4742G>A
XR_949472.1:n.4651G>A
XR_949643.1:n.380+24C>T
XR_949644.1:n.380+24C>T
XR_949645.1:n.380+24C>T
XR_949646.1:n.380+24C>T
XR_949647.1:n.993+24C>T
XR_949648.1:n.895+24C>T
NM_000553.5:c.4015G>A	NP_000544.2:p.Val1339Ile
XM_011544639.3:c.3934G>A	XP_011542941.1:p.Val1312Ile
XM_024447265.1:c.3805G>A	XP_024303033.1:p.Val1269Ile
XR_949470.3:n.4407G>A
XR_949471.3:n.4770G>A
XR_949472.3:n.4679G>A
NM_000553.6:c.4015G>A MANE Select	NP_000544.2:p.Val1339Ile