Canonical Allele Identifier: CA156029

Gene: WRN

Linked Data

• ClinVar Variation Id: 130762
• ClinVar RCV Id: RCV000118880 ; RCV000273969 ; RCV000835594 ; RCV003315695
• dbSNP Id: rs1346044
• ExAC: 8:31024654 T / C
• gnomAD v2: 8-31024654-T-C
• gnomAD v3: 8-31167138-T-C
• gnomAD v4: 8-31167138-T-C
• MyVariant Identifiers: chr8:g.31024654T>C (hg19) ; chr8:g.31167138T>C (hg38)
• PubMed: PMID:9021029 ; PMID:15489508 ; PMID:16786514 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31167138T>C , CM000670.2:g.31167138T>C	GRCh38
NC_000008.10:g.31024654T>C , CM000670.1:g.31024654T>C	GRCh37
NC_000008.9:g.31144196T>C	NCBI36
NG_008870.1:g.138877T>C , LRG_524:g.138877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4099T>C MANE Select	ENSP00000298139.5:p.Cys1367Arg
ENST00000650667.1:c.*3713T>C	ENSP00000498593.1:n.*3713T>C
ENST00000651946.1:n.323T>C
ENST00000298139.5:c.4099T>C	ENSP00000298139.5:p.Cys1367Arg
ENST00000521620.5:n.2732T>C
NM_000553.4:c.4099T>C , LRG_524t1:c.4099T>C	NP_000544.2:p.Cys1367Arg
XM_011544639.1:c.4018T>C	XP_011542941.1:p.Cys1340Arg
XM_011544640.1:c.2500T>C	XP_011542942.1:p.Cys834Arg
XR_949643.1:n.320A>G
XR_949644.1:n.320A>G
XR_949645.1:n.320A>G
XR_949646.1:n.320A>G
XR_949647.1:n.933A>G
XR_949648.1:n.835A>G
NM_000553.5:c.4099T>C	NP_000544.2:p.Cys1367Arg
XM_011544639.3:c.4018T>C	XP_011542941.1:p.Cys1340Arg
XM_024447265.1:c.3889T>C	XP_024303033.1:p.Cys1297Arg
NM_000553.6:c.4099T>C MANE Select	NP_000544.2:p.Cys1367Arg