Canonical Allele Identifier: CA174844881

Gene: WRN

Linked Data

• ClinVar Variation Id: 641356
• ClinVar RCV Id: RCV000794584
• dbSNP Id: rs907937476
• gnomAD v2: 8-30924701-A-G
• gnomAD v3: 8-31067185-A-G
• gnomAD v4: 8-31067185-A-G
• MyVariant Identifiers: chr8:g.30924701A>G (hg19) ; chr8:g.31067185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067185A>G , CM000670.2:g.31067185A>G	GRCh38
NC_000008.10:g.30924701A>G , CM000670.1:g.30924701A>G	GRCh37
NC_000008.9:g.31044243A>G	NCBI36
NG_008870.1:g.38924A>G , LRG_524:g.38924A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.654+3A>G MANE Select	ENSP00000298139.5:n.654+3A>G
ENST00000650667.1:c.*268+3A>G	ENSP00000498593.1:n.*268+3A>G
ENST00000298139.5:c.654+3A>G	ENSP00000298139.5:n.654+3A>G
NM_000553.4:c.654+3A>G , LRG_524t1:c.654+3A>G	NP_000544.2:n.654+3A>G
XM_011544639.1:c.654+3A>G	XP_011542941.1:n.654+3A>G
XR_949470.1:n.927+3A>G
XR_949471.1:n.927+3A>G
XR_949472.1:n.927+3A>G
NM_000553.5:c.654+3A>G	NP_000544.2:n.654+3A>G
XM_011544639.3:c.654+3A>G	XP_011542941.1:n.654+3A>G
XM_024447265.1:c.444+3A>G	XP_024303033.1:n.444+3A>G
XR_949470.3:n.955+3A>G
XR_949471.3:n.955+3A>G
XR_949472.3:n.955+3A>G
NM_000553.6:c.654+3A>G MANE Select	NP_000544.2:n.654+3A>G