Canonical Allele Identifier: CA2686835094

Gene: WRN

Linked Data

• ClinVar Variation Id: 2793188
• ClinVar RCV Id: RCV003614414
• gnomAD v4: 8-31067198-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067198T>G , CM000670.2:g.31067198T>G	GRCh38
NC_000008.10:g.30924714T>G , CM000670.1:g.30924714T>G	GRCh37
NC_000008.9:g.31044256T>G	NCBI36
NG_008870.1:g.38937T>G , LRG_524:g.38937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.654+16T>G MANE Select	ENSP00000298139.5:n.654+16T>G
ENST00000650667.1:c.*268+16T>G	ENSP00000498593.1:n.*268+16T>G
ENST00000298139.5:c.654+16T>G	ENSP00000298139.5:n.654+16T>G
NM_000553.4:c.654+16T>G , LRG_524t1:c.654+16T>G	NP_000544.2:n.654+16T>G
XM_011544639.1:c.654+16T>G	XP_011542941.1:n.654+16T>G
XR_949470.1:n.927+16T>G
XR_949471.1:n.927+16T>G
XR_949472.1:n.927+16T>G
NM_000553.5:c.654+16T>G	NP_000544.2:n.654+16T>G
XM_011544639.3:c.654+16T>G	XP_011542941.1:n.654+16T>G
XM_024447265.1:c.444+16T>G	XP_024303033.1:n.444+16T>G
XR_949470.3:n.955+16T>G
XR_949471.3:n.955+16T>G
XR_949472.3:n.955+16T>G
NM_000553.6:c.654+16T>G MANE Select	NP_000544.2:n.654+16T>G