Canonical Allele Identifier: CA340413

Gene: WRN

Linked Data

• ClinVar Variation Id: 5449
• ClinVar RCV Id: RCV000005782 ; RCV000722025 ; RCV001546857
• dbSNP Id: rs17847577
• ExAC: 8:30938648 C / T
• gnomAD v2: 8-30938648-C-T
• gnomAD v3: 8-31081132-C-T
• gnomAD v4: 8-31081132-C-T
• COSMIC: COSM3899638
• MyVariant Identifiers: chr8:g.30938648C>T (hg19) ; chr8:g.31081132C>T (hg38)
• PubMed: PMID:8968742 ; PMID:9225981 ; PMID:16673358 ; PMID:20301687

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31081132C>T , CM000670.2:g.31081132C>T	GRCh38
NC_000008.10:g.30938648C>T , CM000670.1:g.30938648C>T	GRCh37
NC_000008.9:g.31058190C>T	NCBI36
NG_008870.1:g.52871C>T , LRG_524:g.52871C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.1105C>T MANE Select	ENSP00000298139.5:p.Arg369Ter
ENST00000650667.1:c.*719C>T	ENSP00000498593.1:n.*719C>T
ENST00000651642.1:c.400C>T	ENSP00000498779.1:p.Arg134Ter
ENST00000298139.5:c.1105C>T	ENSP00000298139.5:p.Arg369Ter
NM_000553.4:c.1105C>T , LRG_524t1:c.1105C>T	NP_000544.2:p.Arg369Ter
XM_011544639.1:c.1105C>T	XP_011542941.1:p.Arg369Ter
XR_949470.1:n.1378C>T
XR_949471.1:n.1378C>T
XR_949472.1:n.1378C>T
NM_000553.5:c.1105C>T	NP_000544.2:p.Arg369Ter
XM_011544639.3:c.1105C>T	XP_011542941.1:p.Arg369Ter
XM_024447265.1:c.895C>T	XP_024303033.1:p.Arg299Ter
XR_949470.3:n.1406C>T
XR_949471.3:n.1406C>T
XR_949472.3:n.1406C>T
NM_000553.6:c.1105C>T MANE Select	NP_000544.2:p.Arg369Ter