Canonical Allele Identifier: CA370919697

Gene: WRN

Linked Data

• ClinVar Variation Id: 2057488
• ClinVar RCV Id: RCV002942003
• MyVariant Identifiers: chr8:g.30938414A>G (hg19) ; chr8:g.31080898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31080898A>G , CM000670.2:g.31080898A>G	GRCh38
NC_000008.10:g.30938414A>G , CM000670.1:g.30938414A>G	GRCh37
NC_000008.9:g.31057956A>G	NCBI36
NG_008870.1:g.52637A>G , LRG_524:g.52637A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.871A>G MANE Select	ENSP00000298139.5:p.Asn291Asp
ENST00000650667.1:c.*485A>G	ENSP00000498593.1:n.*485A>G
ENST00000651642.1:c.166A>G	ENSP00000498779.1:p.Asn56Asp
ENST00000298139.5:c.871A>G	ENSP00000298139.5:p.Asn291Asp
NM_000553.4:c.871A>G , LRG_524t1:c.871A>G	NP_000544.2:p.Asn291Asp
XM_011544639.1:c.871A>G	XP_011542941.1:p.Asn291Asp
XR_949470.1:n.1144A>G
XR_949471.1:n.1144A>G
XR_949472.1:n.1144A>G
NM_000553.5:c.871A>G	NP_000544.2:p.Asn291Asp
XM_011544639.3:c.871A>G	XP_011542941.1:p.Asn291Asp
XM_024447265.1:c.661A>G	XP_024303033.1:p.Asn221Asp
XR_949470.3:n.1172A>G
XR_949471.3:n.1172A>G
XR_949472.3:n.1172A>G
NM_000553.6:c.871A>G MANE Select	NP_000544.2:p.Asn291Asp