Canonical Allele Identifier: CA4705051

Gene: WRN

Linked Data

• ClinVar Variation Id: 2074836
• ClinVar RCV Id: RCV002963080
• dbSNP Id: rs761932192
• ExAC: 8:31004571 T / A
• gnomAD v2: 8-31004571-T-A
• gnomAD v4: 8-31147055-T-A
• MyVariant Identifiers: chr8:g.31004571T>A (hg19) ; chr8:g.31147055T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147055T>A , CM000670.2:g.31147055T>A	GRCh38
NC_000008.10:g.31004571T>A , CM000670.1:g.31004571T>A	GRCh37
NC_000008.9:g.31124113T>A	NCBI36
NG_008870.1:g.118794T>A , LRG_524:g.118794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3386T>A MANE Select	ENSP00000298139.5:p.Ile1129Asn
ENST00000650667.1:c.*3000T>A	ENSP00000498593.1:n.*3000T>A
ENST00000298139.5:c.3386T>A	ENSP00000298139.5:p.Ile1129Asn
ENST00000521620.5:n.2019T>A
NM_000553.4:c.3386T>A , LRG_524t1:c.3386T>A	NP_000544.2:p.Ile1129Asn
XM_011544639.1:c.3305T>A	XP_011542941.1:p.Ile1102Asn
XM_011544640.1:c.1787T>A	XP_011542942.1:p.Ile596Asn
XR_949470.1:n.3659T>A
XR_949471.1:n.3659T>A
XR_949472.1:n.3659T>A
XR_949643.1:n.614+1453A>T
NM_000553.5:c.3386T>A	NP_000544.2:p.Ile1129Asn
XM_011544639.3:c.3305T>A	XP_011542941.1:p.Ile1102Asn
XM_024447265.1:c.3176T>A	XP_024303033.1:p.Ile1059Asn
XR_949470.3:n.3687T>A
XR_949471.3:n.3687T>A
XR_949472.3:n.3687T>A
NM_000553.6:c.3386T>A MANE Select	NP_000544.2:p.Ile1129Asn