Canonical Allele Identifier: CA156008

Gene: WRN

Linked Data

• ClinVar Variation Id: 130753
• ClinVar RCV Id: RCV000118871 ; RCV000380943 ; RCV000836716 ; RCV003315686
• dbSNP Id: rs3087409
• ExAC: 8:30946403 C / A
• gnomAD v2: 8-30946403-C-A
• gnomAD v3: 8-31088887-C-A
• gnomAD v4: 8-31088887-C-A
• MyVariant Identifiers: chr8:g.30946403C>A (hg19) ; chr8:g.31088887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31088887C>A , CM000670.2:g.31088887C>A	GRCh38
NC_000008.10:g.30946403C>A , CM000670.1:g.30946403C>A	GRCh37
NC_000008.9:g.31065945C>A	NCBI36
NG_008870.1:g.60626C>A , LRG_524:g.60626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1577-3C>A MANE Select	ENSP00000298139.5:n.1577-3C>A
ENST00000650667.1:c.*1191-3C>A	ENSP00000498593.1:n.*1191-3C>A
ENST00000298139.5:c.1577-3C>A	ENSP00000298139.5:n.1577-3C>A
ENST00000521620.5:n.278-3C>A
NM_000553.4:c.1577-3C>A , LRG_524t1:c.1577-3C>A	NP_000544.2:n.1577-3C>A
XM_011544639.1:c.1496-3C>A	XP_011542941.1:n.1496-3C>A
XM_011544640.1:c.46-3C>A	XP_011542942.1:n.46-3C>A
XR_949470.1:n.1850-3C>A
XR_949471.1:n.1850-3C>A
XR_949472.1:n.1850-3C>A
NM_000553.5:c.1577-3C>A	NP_000544.2:n.1577-3C>A
XM_011544639.3:c.1496-3C>A	XP_011542941.1:n.1496-3C>A
XM_024447265.1:c.1367-3C>A	XP_024303033.1:n.1367-3C>A
XR_949470.3:n.1878-3C>A
XR_949471.3:n.1878-3C>A
XR_949472.3:n.1878-3C>A
NM_000553.6:c.1577-3C>A MANE Select	NP_000544.2:n.1577-3C>A