Canonical Allele Identifier: CA370911708

Gene: WRN

Linked Data

• ClinVar Variation Id: 1524013
• ClinVar RCV Id: RCV002049040
• dbSNP Id: rs747685773
• gnomAD v4: 8-31173043-G-A
• MyVariant Identifiers: chr8:g.31030559G>A (hg19) ; chr8:g.31173043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173043G>A , CM000670.2:g.31173043G>A	GRCh38
NC_000008.10:g.31030559G>A , CM000670.1:g.31030559G>A	GRCh37
NC_000008.9:g.31150101G>A	NCBI36
NG_008870.1:g.144782G>A , LRG_524:g.144782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4240G>A MANE Select	ENSP00000298139.5:p.Gly1414Arg
ENST00000650667.1:c.*3854G>A	ENSP00000498593.1:n.*3854G>A
ENST00000651946.1:n.464G>A
ENST00000298139.5:c.4240G>A	ENSP00000298139.5:p.Gly1414Arg
ENST00000521620.5:n.2873G>A
NM_000553.4:c.4240G>A , LRG_524t1:c.4240G>A	NP_000544.2:p.Gly1414Arg
XM_011544639.1:c.4159G>A	XP_011542941.1:p.Gly1387Arg
XM_011544640.1:c.2641G>A	XP_011542942.1:p.Gly881Arg
XR_949643.1:n.88-1725C>T
XR_949644.1:n.88-1725C>T
XR_949645.1:n.88-1725C>T
XR_949646.1:n.88-1725C>T
XR_949647.1:n.701-1725C>T
XR_949648.1:n.603-1725C>T
NM_000553.5:c.4240G>A	NP_000544.2:p.Gly1414Arg
XM_011544639.3:c.4159G>A	XP_011542941.1:p.Gly1387Arg
XM_024447265.1:c.4030G>A	XP_024303033.1:p.Gly1344Arg
NM_000553.6:c.4240G>A MANE Select	NP_000544.2:p.Gly1414Arg