Canonical Allele Identifier: CA370923226

Gene: WRN

Linked Data

• ClinVar Variation Id: 581823
• ClinVar RCV Id: RCV000705760
• dbSNP Id: rs1563376793
• gnomAD v4: 8-31141776-G-C
• MyVariant Identifiers: chr8:g.30999292G>C (hg19) ; chr8:g.31141776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141776G>C , CM000670.2:g.31141776G>C	GRCh38
NC_000008.10:g.30999292G>C , CM000670.1:g.30999292G>C	GRCh37
NC_000008.9:g.31118834G>C	NCBI36
NG_008870.1:g.113515G>C , LRG_524:g.113515G>C

Transcript Alleles

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