Canonical Allele Identifier: CA460221741

Gene: WRN

Linked Data

• ClinVar Variation Id: 701606
• ClinVar RCV Id: RCV000870209
• dbSNP Id: rs980659335
• MyVariant Identifiers: chr8:g.30924675C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067159C>T , CM000670.2:g.31067159C>T	GRCh38
NC_000008.10:g.30924675C>T , CM000670.1:g.30924675C>T	GRCh37
NC_000008.9:g.31044217C>T	NCBI36
NG_008870.1:g.38898C>T , LRG_524:g.38898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.631C>T MANE Select	ENSP00000298139.5:p.Leu211=
ENST00000650667.1:c.*245C>T	ENSP00000498593.1:n.*245C>T
ENST00000298139.5:c.631C>T	ENSP00000298139.5:p.Leu211=
NM_000553.4:c.631C>T , LRG_524t1:c.631C>T	NP_000544.2:p.Leu211=
XM_011544639.1:c.631C>T	XP_011542941.1:p.Leu211=
XR_949470.1:n.904C>T
XR_949471.1:n.904C>T
XR_949472.1:n.904C>T
NM_000553.5:c.631C>T	NP_000544.2:p.Leu211=
XM_011544639.3:c.631C>T	XP_011542941.1:p.Leu211=
XM_024447265.1:c.421C>T	XP_024303033.1:p.Leu141=
XR_949470.3:n.932C>T
XR_949471.3:n.932C>T
XR_949472.3:n.932C>T
NM_000553.6:c.631C>T MANE Select	NP_000544.2:p.Leu211=