Canonical Allele Identifier: CA580995519

Gene: WRN

Linked Data

• ClinVar Variation Id: 1528398
• ClinVar RCV Id: RCV002071237
• dbSNP Id: rs1455016344
• gnomAD v2: 8-30925857-C-T
• gnomAD v4: 8-31068341-C-T
• COSMIC: COSN26574413
• MyVariant Identifiers: chr8:g.30925857C>T (hg19) ; chr8:g.31068341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068341C>T , CM000670.2:g.31068341C>T	GRCh38
NC_000008.10:g.30925857C>T , CM000670.1:g.30925857C>T	GRCh37
NC_000008.9:g.31045399C>T	NCBI36
NG_008870.1:g.40080C>T , LRG_524:g.40080C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.724+14C>T MANE Select	ENSP00000298139.5:n.724+14C>T
ENST00000650667.1:c.*338+14C>T	ENSP00000498593.1:n.*338+14C>T
ENST00000651642.1:c.19+14C>T	ENSP00000498779.1:n.19+14C>T
ENST00000298139.5:c.724+14C>T	ENSP00000298139.5:n.724+14C>T
NM_000553.4:c.724+14C>T , LRG_524t1:c.724+14C>T	NP_000544.2:n.724+14C>T
XM_011544639.1:c.724+14C>T	XP_011542941.1:n.724+14C>T
XR_949470.1:n.997+14C>T
XR_949471.1:n.997+14C>T
XR_949472.1:n.997+14C>T
NM_000553.5:c.724+14C>T	NP_000544.2:n.724+14C>T
XM_011544639.3:c.724+14C>T	XP_011542941.1:n.724+14C>T
XM_024447265.1:c.514+14C>T	XP_024303033.1:n.514+14C>T
XR_949470.3:n.1025+14C>T
XR_949471.3:n.1025+14C>T
XR_949472.3:n.1025+14C>T
NM_000553.6:c.724+14C>T MANE Select	NP_000544.2:n.724+14C>T