Canonical Allele Identifier: CA370915968

Gene: WRN

Linked Data

• dbSNP Id: rs1060503823
• MyVariant Identifiers: chr8:g.30924582C>A (hg19) ; chr8:g.31067066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067066C>A , CM000670.2:g.31067066C>A	GRCh38
NC_000008.10:g.30924582C>A , CM000670.1:g.30924582C>A	GRCh37
NC_000008.9:g.31044124C>A	NCBI36
NG_008870.1:g.38805C>A , LRG_524:g.38805C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.538C>A MANE Select	ENSP00000298139.5:p.Leu180Met
ENST00000650667.1:c.*152C>A	ENSP00000498593.1:n.*152C>A
ENST00000298139.5:c.538C>A	ENSP00000298139.5:p.Leu180Met
NM_000553.4:c.538C>A , LRG_524t1:c.538C>A	NP_000544.2:p.Leu180Met
XM_011544639.1:c.538C>A	XP_011542941.1:p.Leu180Met
XR_949470.1:n.811C>A
XR_949471.1:n.811C>A
XR_949472.1:n.811C>A
NM_000553.5:c.538C>A	NP_000544.2:p.Leu180Met
XM_011544639.3:c.538C>A	XP_011542941.1:p.Leu180Met
XM_024447265.1:c.328C>A	XP_024303033.1:p.Leu110Met
XR_949470.3:n.839C>A
XR_949471.3:n.839C>A
XR_949472.3:n.839C>A
NM_000553.6:c.538C>A MANE Select	NP_000544.2:p.Leu180Met