Canonical Allele Identifier: CA370922635

Gene: WRN

Linked Data

• ClinVar Variation Id: 2843450
• ClinVar RCV Id: RCV003614601
• MyVariant Identifiers: chr8:g.30999109C>G (hg19) ; chr8:g.31141593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141593C>G , CM000670.2:g.31141593C>G	GRCh38
NC_000008.10:g.30999109C>G , CM000670.1:g.30999109C>G	GRCh37
NC_000008.9:g.31118651C>G	NCBI36
NG_008870.1:g.113332C>G , LRG_524:g.113332C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3131C>G MANE Select	ENSP00000298139.5:p.Thr1044Arg
ENST00000650667.1:c.*2745C>G	ENSP00000498593.1:n.*2745C>G
ENST00000298139.5:c.3131C>G	ENSP00000298139.5:p.Thr1044Arg
ENST00000521620.5:n.1764C>G
NM_000553.4:c.3131C>G , LRG_524t1:c.3131C>G	NP_000544.2:p.Thr1044Arg
XM_011544639.1:c.3050C>G	XP_011542941.1:p.Thr1017Arg
XM_011544640.1:c.1532C>G	XP_011542942.1:p.Thr511Arg
XR_949470.1:n.3404C>G
XR_949471.1:n.3404C>G
XR_949472.1:n.3404C>G
NM_000553.5:c.3131C>G	NP_000544.2:p.Thr1044Arg
XM_011544639.3:c.3050C>G	XP_011542941.1:p.Thr1017Arg
XM_024447265.1:c.2921C>G	XP_024303033.1:p.Thr974Arg
XR_949470.3:n.3432C>G
XR_949471.3:n.3432C>G
XR_949472.3:n.3432C>G
NM_000553.6:c.3131C>G MANE Select	NP_000544.2:p.Thr1044Arg