Canonical Allele Identifier: CA370916230

Gene: WRN

Linked Data

• ClinVar Variation Id: 2429383
• ClinVar RCV Id: RCV003126320
• MyVariant Identifiers: chr8:g.30924644G>T (hg19) ; chr8:g.31067128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067128G>T , CM000670.2:g.31067128G>T	GRCh38
NC_000008.10:g.30924644G>T , CM000670.1:g.30924644G>T	GRCh37
NC_000008.9:g.31044186G>T	NCBI36
NG_008870.1:g.38867G>T , LRG_524:g.38867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.600G>T MANE Select	ENSP00000298139.5:p.Trp200Cys
ENST00000650667.1:c.*214G>T	ENSP00000498593.1:n.*214G>T
ENST00000298139.5:c.600G>T	ENSP00000298139.5:p.Trp200Cys
NM_000553.4:c.600G>T , LRG_524t1:c.600G>T	NP_000544.2:p.Trp200Cys
XM_011544639.1:c.600G>T	XP_011542941.1:p.Trp200Cys
XR_949470.1:n.873G>T
XR_949471.1:n.873G>T
XR_949472.1:n.873G>T
NM_000553.5:c.600G>T	NP_000544.2:p.Trp200Cys
XM_011544639.3:c.600G>T	XP_011542941.1:p.Trp200Cys
XM_024447265.1:c.390G>T	XP_024303033.1:p.Trp130Cys
XR_949470.3:n.901G>T
XR_949471.3:n.901G>T
XR_949472.3:n.901G>T
NM_000553.6:c.600G>T MANE Select	NP_000544.2:p.Trp200Cys