Canonical Allele Identifier: CA174889562

Gene: WRN

Linked Data

• ClinVar Variation Id: 458482
• ClinVar RCV Id: RCV000555488 ; RCV003237898
• dbSNP Id: rs753208401
• gnomAD v2: 8-31030594-G-A
• gnomAD v4: 8-31173078-G-A
• MyVariant Identifiers: chr8:g.31030594G>A (hg19) ; chr8:g.31173078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173078G>A , CM000670.2:g.31173078G>A	GRCh38
NC_000008.10:g.31030594G>A , CM000670.1:g.31030594G>A	GRCh37
NC_000008.9:g.31150136G>A	NCBI36
NG_008870.1:g.144817G>A , LRG_524:g.144817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4275G>A MANE Select	ENSP00000298139.5:p.Thr1425=
ENST00000650667.1:c.*3889G>A	ENSP00000498593.1:n.*3889G>A
ENST00000651946.1:n.499G>A
ENST00000298139.5:c.4275G>A	ENSP00000298139.5:p.Thr1425=
ENST00000521620.5:n.2908G>A
NM_000553.4:c.4275G>A , LRG_524t1:c.4275G>A	NP_000544.2:p.Thr1425=
XM_011544639.1:c.4194G>A	XP_011542941.1:p.Thr1398=
XM_011544640.1:c.2676G>A	XP_011542942.1:p.Thr892=
XR_949643.1:n.88-1760C>T
XR_949644.1:n.88-1760C>T
XR_949645.1:n.88-1760C>T
XR_949646.1:n.88-1760C>T
XR_949647.1:n.701-1760C>T
XR_949648.1:n.603-1760C>T
NM_000553.5:c.4275G>A	NP_000544.2:p.Thr1425=
XM_011544639.3:c.4194G>A	XP_011542941.1:p.Thr1398=
XM_024447265.1:c.4065G>A	XP_024303033.1:p.Thr1355=
NM_000553.6:c.4275G>A MANE Select	NP_000544.2:p.Thr1425=