Canonical Allele Identifier: CA370922587

Gene: WRN

Linked Data

• ClinVar Variation Id: 1056905
• ClinVar RCV Id: RCV001365800
• dbSNP Id: rs759240091
• gnomAD v2: 8-30999103-C-A
• gnomAD v4: 8-31141587-C-A
• MyVariant Identifiers: chr8:g.30999103C>A (hg19) ; chr8:g.31141587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141587C>A , CM000670.2:g.31141587C>A	GRCh38
NC_000008.10:g.30999103C>A , CM000670.1:g.30999103C>A	GRCh37
NC_000008.9:g.31118645C>A	NCBI36
NG_008870.1:g.113326C>A , LRG_524:g.113326C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3125C>A MANE Select	ENSP00000298139.5:p.Ala1042Asp
ENST00000650667.1:c.*2739C>A	ENSP00000498593.1:n.*2739C>A
ENST00000298139.5:c.3125C>A	ENSP00000298139.5:p.Ala1042Asp
ENST00000521620.5:n.1758C>A
NM_000553.4:c.3125C>A , LRG_524t1:c.3125C>A	NP_000544.2:p.Ala1042Asp
XM_011544639.1:c.3044C>A	XP_011542941.1:p.Ala1015Asp
XM_011544640.1:c.1526C>A	XP_011542942.1:p.Ala509Asp
XR_949470.1:n.3398C>A
XR_949471.1:n.3398C>A
XR_949472.1:n.3398C>A
NM_000553.5:c.3125C>A	NP_000544.2:p.Ala1042Asp
XM_011544639.3:c.3044C>A	XP_011542941.1:p.Ala1015Asp
XM_024447265.1:c.2915C>A	XP_024303033.1:p.Ala972Asp
XR_949470.3:n.3426C>A
XR_949471.3:n.3426C>A
XR_949472.3:n.3426C>A
NM_000553.6:c.3125C>A MANE Select	NP_000544.2:p.Ala1042Asp