Canonical Allele Identifier: CA370915989

Gene: WRN

Linked Data

• ClinVar Variation Id: 1483341
• ClinVar RCV Id: RCV002025417
• dbSNP Id: rs2130049458
• MyVariant Identifiers: chr8:g.30924589A>G (hg19) ; chr8:g.31067073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067073A>G , CM000670.2:g.31067073A>G	GRCh38
NC_000008.10:g.30924589A>G , CM000670.1:g.30924589A>G	GRCh37
NC_000008.9:g.31044131A>G	NCBI36
NG_008870.1:g.38812A>G , LRG_524:g.38812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.545A>G MANE Select	ENSP00000298139.5:p.Lys182Arg
ENST00000650667.1:c.*159A>G	ENSP00000498593.1:n.*159A>G
ENST00000298139.5:c.545A>G	ENSP00000298139.5:p.Lys182Arg
NM_000553.4:c.545A>G , LRG_524t1:c.545A>G	NP_000544.2:p.Lys182Arg
XM_011544639.1:c.545A>G	XP_011542941.1:p.Lys182Arg
XR_949470.1:n.818A>G
XR_949471.1:n.818A>G
XR_949472.1:n.818A>G
NM_000553.5:c.545A>G	NP_000544.2:p.Lys182Arg
XM_011544639.3:c.545A>G	XP_011542941.1:p.Lys182Arg
XM_024447265.1:c.335A>G	XP_024303033.1:p.Lys112Arg
XR_949470.3:n.846A>G
XR_949471.3:n.846A>G
XR_949472.3:n.846A>G
NM_000553.6:c.545A>G MANE Select	NP_000544.2:p.Lys182Arg