Canonical Allele Identifier: CA370916412

Gene: WRN

Linked Data

• ClinVar Variation Id: 577540
• ClinVar RCV Id: RCV000700325
• dbSNP Id: rs1160440215
• gnomAD v2: 8-30924688-C-T
• gnomAD v3: 8-31067172-C-T
• gnomAD v4: 8-31067172-C-T
• MyVariant Identifiers: chr8:g.30924688C>T (hg19) ; chr8:g.31067172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067172C>T , CM000670.2:g.31067172C>T	GRCh38
NC_000008.10:g.30924688C>T , CM000670.1:g.30924688C>T	GRCh37
NC_000008.9:g.31044230C>T	NCBI36
NG_008870.1:g.38911C>T , LRG_524:g.38911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.644C>T MANE Select	ENSP00000298139.5:p.Thr215Ile
ENST00000650667.1:c.*258C>T	ENSP00000498593.1:n.*258C>T
ENST00000298139.5:c.644C>T	ENSP00000298139.5:p.Thr215Ile
NM_000553.4:c.644C>T , LRG_524t1:c.644C>T	NP_000544.2:p.Thr215Ile
XM_011544639.1:c.644C>T	XP_011542941.1:p.Thr215Ile
XR_949470.1:n.917C>T
XR_949471.1:n.917C>T
XR_949472.1:n.917C>T
NM_000553.5:c.644C>T	NP_000544.2:p.Thr215Ile
XM_011544639.3:c.644C>T	XP_011542941.1:p.Thr215Ile
XM_024447265.1:c.434C>T	XP_024303033.1:p.Thr145Ile
XR_949470.3:n.945C>T
XR_949471.3:n.945C>T
XR_949472.3:n.945C>T
NM_000553.6:c.644C>T MANE Select	NP_000544.2:p.Thr215Ile