Canonical Allele Identifier: CA174904558

Gene: WRN

Linked Data

• ClinVar Variation Id: 1051043
• ClinVar RCV Id: RCV001359028
• dbSNP Id: rs761932192
• gnomAD v4: 8-31147055-T-C
• MyVariant Identifiers: chr8:g.31004571T>C (hg19) ; chr8:g.31147055T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3386T>C MANE Select	ENSP00000298139.5:p.Ile1129Thr
ENST00000650667.1:c.*3000T>C	ENSP00000498593.1:n.*3000T>C
ENST00000298139.5:c.3386T>C	ENSP00000298139.5:p.Ile1129Thr
ENST00000521620.5:n.2019T>C
NM_000553.4:c.3386T>C , LRG_524t1:c.3386T>C	NP_000544.2:p.Ile1129Thr
XM_011544639.1:c.3305T>C	XP_011542941.1:p.Ile1102Thr
XM_011544640.1:c.1787T>C	XP_011542942.1:p.Ile596Thr
XR_949470.1:n.3659T>C
XR_949471.1:n.3659T>C
XR_949472.1:n.3659T>C
XR_949643.1:n.614+1453A>G
NM_000553.5:c.3386T>C	NP_000544.2:p.Ile1129Thr
XM_011544639.3:c.3305T>C	XP_011542941.1:p.Ile1102Thr
XM_024447265.1:c.3176T>C	XP_024303033.1:p.Ile1059Thr
XR_949470.3:n.3687T>C
XR_949471.3:n.3687T>C
XR_949472.3:n.3687T>C
NM_000553.6:c.3386T>C MANE Select	NP_000544.2:p.Ile1129Thr