Canonical Allele Identifier: CA174849117

Gene: WRN

Linked Data

• dbSNP Id: rs904862284
• gnomAD v2: 8-30925720-G-A
• gnomAD v3: 8-31068204-G-A
• gnomAD v4: 8-31068204-G-A
• MyVariant Identifiers: chr8:g.30925720G>A (hg19) ; chr8:g.31068204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068204G>A , CM000670.2:g.31068204G>A	GRCh38
NC_000008.10:g.30925720G>A , CM000670.1:g.30925720G>A	GRCh37
NC_000008.9:g.31045262G>A	NCBI36
NG_008870.1:g.39943G>A , LRG_524:g.39943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.655-54G>A MANE Select	ENSP00000298139.5:n.655-54G>A
ENST00000650667.1:c.*269-54G>A	ENSP00000498593.1:n.*269-54G>A
ENST00000298139.5:c.655-54G>A	ENSP00000298139.5:n.655-54G>A
NM_000553.4:c.655-54G>A , LRG_524t1:c.655-54G>A	NP_000544.2:n.655-54G>A
XM_011544639.1:c.655-54G>A	XP_011542941.1:n.655-54G>A
XR_949470.1:n.928-54G>A
XR_949471.1:n.928-54G>A
XR_949472.1:n.928-54G>A
NM_000553.5:c.655-54G>A	NP_000544.2:n.655-54G>A
XM_011544639.3:c.655-54G>A	XP_011542941.1:n.655-54G>A
XM_024447265.1:c.445-54G>A	XP_024303033.1:n.445-54G>A
XR_949470.3:n.956-54G>A
XR_949471.3:n.956-54G>A
XR_949472.3:n.956-54G>A
NM_000553.6:c.655-54G>A MANE Select	NP_000544.2:n.655-54G>A