Canonical Allele Identifier: CA370916227

Gene: WRN

Linked Data

• ClinVar Variation Id: 2743174
• ClinVar RCV Id: RCV003504586
• MyVariant Identifiers: chr8:g.30924643G>T (hg19) ; chr8:g.31067127G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067127G>T , CM000670.2:g.31067127G>T	GRCh38
NC_000008.10:g.30924643G>T , CM000670.1:g.30924643G>T	GRCh37
NC_000008.9:g.31044185G>T	NCBI36
NG_008870.1:g.38866G>T , LRG_524:g.38866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.599G>T MANE Select	ENSP00000298139.5:p.Trp200Leu
ENST00000650667.1:c.*213G>T	ENSP00000498593.1:n.*213G>T
ENST00000298139.5:c.599G>T	ENSP00000298139.5:p.Trp200Leu
NM_000553.4:c.599G>T , LRG_524t1:c.599G>T	NP_000544.2:p.Trp200Leu
XM_011544639.1:c.599G>T	XP_011542941.1:p.Trp200Leu
XR_949470.1:n.872G>T
XR_949471.1:n.872G>T
XR_949472.1:n.872G>T
NM_000553.5:c.599G>T	NP_000544.2:p.Trp200Leu
XM_011544639.3:c.599G>T	XP_011542941.1:p.Trp200Leu
XM_024447265.1:c.389G>T	XP_024303033.1:p.Trp130Leu
XR_949470.3:n.900G>T
XR_949471.3:n.900G>T
XR_949472.3:n.900G>T
NM_000553.6:c.599G>T MANE Select	NP_000544.2:p.Trp200Leu