Canonical Allele Identifier: CA370916444

Gene: WRN

Linked Data

• ClinVar Variation Id: 1051020
• ClinVar RCV Id: RCV001359001
• dbSNP Id: rs780640173
• MyVariant Identifiers: chr8:g.30924697A>T (hg19) ; chr8:g.31067181A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067181A>T , CM000670.2:g.31067181A>T	GRCh38
NC_000008.10:g.30924697A>T , CM000670.1:g.30924697A>T	GRCh37
NC_000008.9:g.31044239A>T	NCBI36
NG_008870.1:g.38920A>T , LRG_524:g.38920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.653A>T MANE Select	ENSP00000298139.5:p.Tyr218Phe
ENST00000650667.1:c.*267A>T	ENSP00000498593.1:n.*267A>T
ENST00000298139.5:c.653A>T	ENSP00000298139.5:p.Tyr218Phe
NM_000553.4:c.653A>T , LRG_524t1:c.653A>T	NP_000544.2:p.Tyr218Phe
XM_011544639.1:c.653A>T	XP_011542941.1:p.Tyr218Phe
XR_949470.1:n.926A>T
XR_949471.1:n.926A>T
XR_949472.1:n.926A>T
NM_000553.5:c.653A>T	NP_000544.2:p.Tyr218Phe
XM_011544639.3:c.653A>T	XP_011542941.1:p.Tyr218Phe
XM_024447265.1:c.443A>T	XP_024303033.1:p.Tyr148Phe
XR_949470.3:n.954A>T
XR_949471.3:n.954A>T
XR_949472.3:n.954A>T
NM_000553.6:c.653A>T MANE Select	NP_000544.2:p.Tyr218Phe