Canonical Allele Identifier: CA581428615

Gene: WRN

Linked Data

• ClinVar Variation Id: 2725810
• ClinVar RCV Id: RCV003506298
• dbSNP Id: rs1185879122
• gnomAD v2: 8-31004861-T-G
• gnomAD v4: 8-31147345-T-G
• MyVariant Identifiers: chr8:g.31004861T>G (hg19) ; chr8:g.31147345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147345T>G , CM000670.2:g.31147345T>G	GRCh38
NC_000008.10:g.31004861T>G , CM000670.1:g.31004861T>G	GRCh37
NC_000008.9:g.31124403T>G	NCBI36
NG_008870.1:g.119084T>G , LRG_524:g.119084T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3460-19T>G MANE Select	ENSP00000298139.5:n.3460-19T>G
ENST00000650667.1:c.*3074-19T>G	ENSP00000498593.1:n.*3074-19T>G
ENST00000298139.5:c.3460-19T>G	ENSP00000298139.5:n.3460-19T>G
ENST00000521620.5:n.2093-19T>G
NM_000553.4:c.3460-19T>G , LRG_524t1:c.3460-19T>G	NP_000544.2:n.3460-19T>G
XM_011544639.1:c.3379-19T>G	XP_011542941.1:n.3379-19T>G
XM_011544640.1:c.1861-19T>G	XP_011542942.1:n.1861-19T>G
XR_949470.1:n.3733-19T>G
XR_949471.1:n.3733-19T>G
XR_949472.1:n.3733-19T>G
XR_949643.1:n.614+1163A>C
NM_000553.5:c.3460-19T>G	NP_000544.2:n.3460-19T>G
XM_011544639.3:c.3379-19T>G	XP_011542941.1:n.3379-19T>G
XM_024447265.1:c.3250-19T>G	XP_024303033.1:n.3250-19T>G
XR_949470.3:n.3761-19T>G
XR_949471.3:n.3761-19T>G
XR_949472.3:n.3761-19T>G
NM_000553.6:c.3460-19T>G MANE Select	NP_000544.2:n.3460-19T>G