Canonical Allele Identifier: CA370916178

Gene: WRN

Linked Data

• ClinVar Variation Id: 2824598
• ClinVar RCV Id: RCV003613834
• MyVariant Identifiers: chr8:g.30924633T>A (hg19) ; chr8:g.31067117T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067117T>A , CM000670.2:g.31067117T>A	GRCh38
NC_000008.10:g.30924633T>A , CM000670.1:g.30924633T>A	GRCh37
NC_000008.9:g.31044175T>A	NCBI36
NG_008870.1:g.38856T>A , LRG_524:g.38856T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.589T>A MANE Select	ENSP00000298139.5:p.Cys197Ser
ENST00000650667.1:c.*203T>A	ENSP00000498593.1:n.*203T>A
ENST00000298139.5:c.589T>A	ENSP00000298139.5:p.Cys197Ser
NM_000553.4:c.589T>A , LRG_524t1:c.589T>A	NP_000544.2:p.Cys197Ser
XM_011544639.1:c.589T>A	XP_011542941.1:p.Cys197Ser
XR_949470.1:n.862T>A
XR_949471.1:n.862T>A
XR_949472.1:n.862T>A
NM_000553.5:c.589T>A	NP_000544.2:p.Cys197Ser
XM_011544639.3:c.589T>A	XP_011542941.1:p.Cys197Ser
XM_024447265.1:c.379T>A	XP_024303033.1:p.Cys127Ser
XR_949470.3:n.890T>A
XR_949471.3:n.890T>A
XR_949472.3:n.890T>A
NM_000553.6:c.589T>A MANE Select	NP_000544.2:p.Cys197Ser