Canonical Allele Identifier: CA460221599

Gene: WRN

Linked Data

• gnomAD v4: 8-31067050-C-A
• MyVariant Identifiers: chr8:g.30924566C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067050C>A , CM000670.2:g.31067050C>A	GRCh38
NC_000008.10:g.30924566C>A , CM000670.1:g.30924566C>A	GRCh37
NC_000008.9:g.31044108C>A	NCBI36
NG_008870.1:g.38789C>A , LRG_524:g.38789C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.522C>A MANE Select	ENSP00000298139.5:p.Thr174=
ENST00000650667.1:c.*136C>A	ENSP00000498593.1:n.*136C>A
ENST00000298139.5:c.522C>A	ENSP00000298139.5:p.Thr174=
NM_000553.4:c.522C>A , LRG_524t1:c.522C>A	NP_000544.2:p.Thr174=
XM_011544639.1:c.522C>A	XP_011542941.1:p.Thr174=
XR_949470.1:n.795C>A
XR_949471.1:n.795C>A
XR_949472.1:n.795C>A
NM_000553.5:c.522C>A	NP_000544.2:p.Thr174=
XM_011544639.3:c.522C>A	XP_011542941.1:p.Thr174=
XM_024447265.1:c.312C>A	XP_024303033.1:p.Thr104=
XR_949470.3:n.823C>A
XR_949471.3:n.823C>A
XR_949472.3:n.823C>A
NM_000553.6:c.522C>A MANE Select	NP_000544.2:p.Thr174=