Canonical Allele Identifier: CA850740279

Gene: WRN

Linked Data

• ClinVar Variation Id: 2994669
• ClinVar RCV Id: RCV003858292
• dbSNP Id: rs1341127883
• gnomAD v3: 8-31141677-A-G
• gnomAD v4: 8-31141677-A-G
• MyVariant Identifiers: chr8:g.30999193A>G (hg19) ; chr8:g.31141677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141677A>G , CM000670.2:g.31141677A>G	GRCh38
NC_000008.10:g.30999193A>G , CM000670.1:g.30999193A>G	GRCh37
NC_000008.9:g.31118735A>G	NCBI36
NG_008870.1:g.113416A>G , LRG_524:g.113416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3139-4A>G MANE Select	ENSP00000298139.5:n.3139-4A>G
ENST00000650667.1:c.*2753-4A>G	ENSP00000498593.1:n.*2753-4A>G
ENST00000298139.5:c.3139-4A>G	ENSP00000298139.5:n.3139-4A>G
ENST00000521620.5:n.1772-4A>G
NM_000553.4:c.3139-4A>G , LRG_524t1:c.3139-4A>G	NP_000544.2:n.3139-4A>G
XM_011544639.1:c.3058-4A>G	XP_011542941.1:n.3058-4A>G
XM_011544640.1:c.1540-4A>G	XP_011542942.1:n.1540-4A>G
XR_949470.1:n.3412-4A>G
XR_949471.1:n.3412-4A>G
XR_949472.1:n.3412-4A>G
NM_000553.5:c.3139-4A>G	NP_000544.2:n.3139-4A>G
XM_011544639.3:c.3058-4A>G	XP_011542941.1:n.3058-4A>G
XM_024447265.1:c.2929-4A>G	XP_024303033.1:n.2929-4A>G
XR_949470.3:n.3440-4A>G
XR_949471.3:n.3440-4A>G
XR_949472.3:n.3440-4A>G
NM_000553.6:c.3139-4A>G MANE Select	NP_000544.2:n.3139-4A>G