Canonical Allele Identifier: CA370922589

Gene: WRN

Linked Data

• dbSNP Id: rs1330989102
• gnomAD v2: 8-30999105-C-A
• gnomAD v4: 8-31141589-C-A
• MyVariant Identifiers: chr8:g.30999105C>A (hg19) ; chr8:g.31141589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141589C>A , CM000670.2:g.31141589C>A	GRCh38
NC_000008.10:g.30999105C>A , CM000670.1:g.30999105C>A	GRCh37
NC_000008.9:g.31118647C>A	NCBI36
NG_008870.1:g.113328C>A , LRG_524:g.113328C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3127C>A MANE Select	ENSP00000298139.5:p.Leu1043Ile
ENST00000650667.1:c.*2741C>A	ENSP00000498593.1:n.*2741C>A
ENST00000298139.5:c.3127C>A	ENSP00000298139.5:p.Leu1043Ile
ENST00000521620.5:n.1760C>A
NM_000553.4:c.3127C>A , LRG_524t1:c.3127C>A	NP_000544.2:p.Leu1043Ile
XM_011544639.1:c.3046C>A	XP_011542941.1:p.Leu1016Ile
XM_011544640.1:c.1528C>A	XP_011542942.1:p.Leu510Ile
XR_949470.1:n.3400C>A
XR_949471.1:n.3400C>A
XR_949472.1:n.3400C>A
NM_000553.5:c.3127C>A	NP_000544.2:p.Leu1043Ile
XM_011544639.3:c.3046C>A	XP_011542941.1:p.Leu1016Ile
XM_024447265.1:c.2917C>A	XP_024303033.1:p.Leu973Ile
XR_949470.3:n.3428C>A
XR_949471.3:n.3428C>A
XR_949472.3:n.3428C>A
NM_000553.6:c.3127C>A MANE Select	NP_000544.2:p.Leu1043Ile