Canonical Allele Identifier: CA370916203

Gene: WRN

Linked Data

• ClinVar Variation Id: 2049584
• ClinVar RCV Id: RCV002937168
• gnomAD v4: 8-31067122-C-G
• MyVariant Identifiers: chr8:g.30924638C>G (hg19) ; chr8:g.31067122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067122C>G , CM000670.2:g.31067122C>G	GRCh38
NC_000008.10:g.30924638C>G , CM000670.1:g.30924638C>G	GRCh37
NC_000008.9:g.31044180C>G	NCBI36
NG_008870.1:g.38861C>G , LRG_524:g.38861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.594C>G MANE Select	ENSP00000298139.5:p.Ser198Arg
ENST00000650667.1:c.*208C>G	ENSP00000498593.1:n.*208C>G
ENST00000298139.5:c.594C>G	ENSP00000298139.5:p.Ser198Arg
NM_000553.4:c.594C>G , LRG_524t1:c.594C>G	NP_000544.2:p.Ser198Arg
XM_011544639.1:c.594C>G	XP_011542941.1:p.Ser198Arg
XR_949470.1:n.867C>G
XR_949471.1:n.867C>G
XR_949472.1:n.867C>G
NM_000553.5:c.594C>G	NP_000544.2:p.Ser198Arg
XM_011544639.3:c.594C>G	XP_011542941.1:p.Ser198Arg
XM_024447265.1:c.384C>G	XP_024303033.1:p.Ser128Arg
XR_949470.3:n.895C>G
XR_949471.3:n.895C>G
XR_949472.3:n.895C>G
NM_000553.6:c.594C>G MANE Select	NP_000544.2:p.Ser198Arg