Canonical Allele Identifier: CA2580078151

Gene: WRN

Linked Data

• ClinVar Variation Id: 2146660
• ClinVar RCV Id: RCV003076789
• gnomAD v4: 8-31141788-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141788G>A , CM000670.2:g.31141788G>A	GRCh38
NC_000008.10:g.30999304G>A , CM000670.1:g.30999304G>A	GRCh37
NC_000008.9:g.31118846G>A	NCBI36
NG_008870.1:g.113527G>A , LRG_524:g.113527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3233+13G>A MANE Select	ENSP00000298139.5:n.3233+13G>A
ENST00000650667.1:c.*2847+13G>A	ENSP00000498593.1:n.*2847+13G>A
ENST00000298139.5:c.3233+13G>A	ENSP00000298139.5:n.3233+13G>A
ENST00000521620.5:n.1866+13G>A
NM_000553.4:c.3233+13G>A , LRG_524t1:c.3233+13G>A	NP_000544.2:n.3233+13G>A
XM_011544639.1:c.3152+13G>A	XP_011542941.1:n.3152+13G>A
XM_011544640.1:c.1634+13G>A	XP_011542942.1:n.1634+13G>A
XR_949470.1:n.3506+13G>A
XR_949471.1:n.3506+13G>A
XR_949472.1:n.3506+13G>A
NM_000553.5:c.3233+13G>A	NP_000544.2:n.3233+13G>A
XM_011544639.3:c.3152+13G>A	XP_011542941.1:n.3152+13G>A
XM_024447265.1:c.3023+13G>A	XP_024303033.1:n.3023+13G>A
XR_949470.3:n.3534+13G>A
XR_949471.3:n.3534+13G>A
XR_949472.3:n.3534+13G>A
NM_000553.6:c.3233+13G>A MANE Select	NP_000544.2:n.3233+13G>A