Canonical Allele Identifier: CA460223983

Gene: WRN

Linked Data

• ClinVar Variation Id: 837395
• ClinVar RCV Id: RCV001038717
• dbSNP Id: rs1802888249
• gnomAD v4: 8-31147128-G-A
• MyVariant Identifiers: chr8:g.31004644G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147128G>A , CM000670.2:g.31147128G>A	GRCh38
NC_000008.10:g.31004644G>A , CM000670.1:g.31004644G>A	GRCh37
NC_000008.9:g.31124186G>A	NCBI36
NG_008870.1:g.118867G>A , LRG_524:g.118867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3459G>A MANE Select	ENSP00000298139.5:p.Gln1153=
ENST00000650667.1:c.*3073G>A	ENSP00000498593.1:n.*3073G>A
ENST00000298139.5:c.3459G>A	ENSP00000298139.5:p.Gln1153=
ENST00000521620.5:n.2092G>A
NM_000553.4:c.3459G>A , LRG_524t1:c.3459G>A	NP_000544.2:p.Gln1153=
XM_011544639.1:c.3378G>A	XP_011542941.1:p.Gln1126=
XM_011544640.1:c.1860G>A	XP_011542942.1:p.Gln620=
XR_949470.1:n.3732G>A
XR_949471.1:n.3732G>A
XR_949472.1:n.3732G>A
XR_949643.1:n.614+1380C>T
NM_000553.5:c.3459G>A	NP_000544.2:p.Gln1153=
XM_011544639.3:c.3378G>A	XP_011542941.1:p.Gln1126=
XM_024447265.1:c.3249G>A	XP_024303033.1:p.Gln1083=
XR_949470.3:n.3760G>A
XR_949471.3:n.3760G>A
XR_949472.3:n.3760G>A
NM_000553.6:c.3459G>A MANE Select	NP_000544.2:p.Gln1153=