Canonical Allele Identifier: CA370916924

Gene: WRN

Linked Data

• ClinVar Variation Id: 528183
• ClinVar RCV Id: RCV000633267
• dbSNP Id: rs1554519439
• MyVariant Identifiers: chr8:g.30925789T>A (hg19) ; chr8:g.31068273T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068273T>A , CM000670.2:g.31068273T>A	GRCh38
NC_000008.10:g.30925789T>A , CM000670.1:g.30925789T>A	GRCh37
NC_000008.9:g.31045331T>A	NCBI36
NG_008870.1:g.40012T>A , LRG_524:g.40012T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.670T>A MANE Select	ENSP00000298139.5:p.Tyr224Asn
ENST00000650667.1:c.*284T>A	ENSP00000498593.1:n.*284T>A
ENST00000298139.5:c.670T>A	ENSP00000298139.5:p.Tyr224Asn
NM_000553.4:c.670T>A , LRG_524t1:c.670T>A	NP_000544.2:p.Tyr224Asn
XM_011544639.1:c.670T>A	XP_011542941.1:p.Tyr224Asn
XR_949470.1:n.943T>A
XR_949471.1:n.943T>A
XR_949472.1:n.943T>A
NM_000553.5:c.670T>A	NP_000544.2:p.Tyr224Asn
XM_011544639.3:c.670T>A	XP_011542941.1:p.Tyr224Asn
XM_024447265.1:c.460T>A	XP_024303033.1:p.Tyr154Asn
XR_949470.3:n.971T>A
XR_949471.3:n.971T>A
XR_949472.3:n.971T>A
NM_000553.6:c.670T>A MANE Select	NP_000544.2:p.Tyr224Asn