Canonical Allele Identifier: CA162749

Gene: WRN

Linked Data

• ClinVar Variation Id: 135433
• ClinVar RCV Id: RCV000122290 ; RCV001854678
• dbSNP Id: rs587778749
• ExAC: 8:30916717 T / A
• gnomAD v2: 8-30916717-T-A
• gnomAD v4: 8-31059201-T-A
• MyVariant Identifiers: chr8:g.30916717T>A (hg19) ; chr8:g.31059201T>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31059201T>A , CM000670.2:g.31059201T>A	GRCh38
NC_000008.10:g.30916717T>A , CM000670.1:g.30916717T>A	GRCh37
NC_000008.9:g.31036259T>A	NCBI36
NG_008870.1:g.30940T>A , LRG_524:g.30940T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.145T>A MANE Select	ENSP00000298139.5:p.Phe49Ile
ENST00000650667.1:c.145T>A	ENSP00000498593.1:p.Phe49Ile
ENST00000298139.5:c.145T>A	ENSP00000298139.5:p.Phe49Ile
NM_000553.4:c.145T>A , LRG_524t1:c.145T>A	NP_000544.2:p.Phe49Ile
XM_011544639.1:c.145T>A	XP_011542941.1:p.Phe49Ile
XR_949470.1:n.418T>A
XR_949471.1:n.418T>A
XR_949472.1:n.418T>A
NM_000553.5:c.145T>A	NP_000544.2:p.Phe49Ile
XM_011544639.3:c.145T>A	XP_011542941.1:p.Phe49Ile
XM_024447265.1:c.-190T>A	XP_024303033.1:n.-190T>A
XR_949470.3:n.446T>A
XR_949471.3:n.446T>A
XR_949472.3:n.446T>A
NM_000553.6:c.145T>A MANE Select	NP_000544.2:p.Phe49Ile