Canonical Allele Identifier: CA1112398873

Gene: WRN

Linked Data

• ClinVar Variation Id: 2831524
• ClinVar RCV Id: RCV003613929
• dbSNP Id: rs1802648496
• gnomAD v3: 8-31141780-A-T
• gnomAD v4: 8-31141780-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141780A>T , CM000670.2:g.31141780A>T	GRCh38
NC_000008.10:g.30999296A>T , CM000670.1:g.30999296A>T	GRCh37
NC_000008.9:g.31118838A>T	NCBI36
NG_008870.1:g.113519A>T , LRG_524:g.113519A>T

Transcript Alleles

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