Canonical Allele Identifier: CA370922549

Gene: WRN

Linked Data

• ClinVar Variation Id: 944095
• ClinVar RCV Id: RCV001214421
• dbSNP Id: rs1802635322
• MyVariant Identifiers: chr8:g.30999100G>A (hg19) ; chr8:g.31141584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141584G>A , CM000670.2:g.31141584G>A	GRCh38
NC_000008.10:g.30999100G>A , CM000670.1:g.30999100G>A	GRCh37
NC_000008.9:g.31118642G>A	NCBI36
NG_008870.1:g.113323G>A , LRG_524:g.113323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3122G>A MANE Select	ENSP00000298139.5:p.Cys1041Tyr
ENST00000650667.1:c.*2736G>A	ENSP00000498593.1:n.*2736G>A
ENST00000298139.5:c.3122G>A	ENSP00000298139.5:p.Cys1041Tyr
ENST00000521620.5:n.1755G>A
NM_000553.4:c.3122G>A , LRG_524t1:c.3122G>A	NP_000544.2:p.Cys1041Tyr
XM_011544639.1:c.3041G>A	XP_011542941.1:p.Cys1014Tyr
XM_011544640.1:c.1523G>A	XP_011542942.1:p.Cys508Tyr
XR_949470.1:n.3395G>A
XR_949471.1:n.3395G>A
XR_949472.1:n.3395G>A
NM_000553.5:c.3122G>A	NP_000544.2:p.Cys1041Tyr
XM_011544639.3:c.3041G>A	XP_011542941.1:p.Cys1014Tyr
XM_024447265.1:c.2912G>A	XP_024303033.1:p.Cys971Tyr
XR_949470.3:n.3423G>A
XR_949471.3:n.3423G>A
XR_949472.3:n.3423G>A
NM_000553.6:c.3122G>A MANE Select	NP_000544.2:p.Cys1041Tyr