Canonical Allele Identifier: CA580974730

Gene: WRN

Linked Data

• dbSNP Id: rs991433247
• gnomAD v2: 8-30891311-T-G
• gnomAD v3: 8-31033795-T-G
• gnomAD v4: 8-31033795-T-G
• MyVariant Identifiers: chr8:g.30891311T>G (hg19) ; chr8:g.31033795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31033795T>G , CM000670.2:g.31033795T>G	GRCh38
NC_000008.10:g.30891311T>G , CM000670.1:g.30891311T>G	GRCh37
NC_000008.9:g.31010853T>G	NCBI36
NG_008870.1:g.5534T>G , LRG_524:g.5534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650667.1:c.-255T>G	ENSP00000498593.1:n.-255T>G
NM_000553.4:c.-255T>G , LRG_524t1:c.-255T>G	NP_000544.2:n.-255T>G
XM_011544639.1:c.-255T>G	XP_011542941.1:n.-255T>G
XR_949470.1:n.19T>G
XR_949471.1:n.19T>G
XR_949472.1:n.19T>G
NM_000553.5:c.-255T>G	NP_000544.2:n.-255T>G
XM_011544639.3:c.-255T>G	XP_011542941.1:n.-255T>G
XM_024447265.1:c.-589T>G	XP_024303033.1:n.-589T>G
XR_949470.3:n.47T>G
XR_949471.3:n.47T>G
XR_949472.3:n.47T>G