Canonical Allele Identifier: CA174900057

Gene: WRN

Linked Data

• ClinVar Variation Id: 1349750
• ClinVar RCV Id: RCV002039241
• dbSNP Id: rs1009990257
• gnomAD v4: 8-31141595-A-G
• MyVariant Identifiers: chr8:g.30999111A>G (hg19) ; chr8:g.31141595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141595A>G , CM000670.2:g.31141595A>G	GRCh38
NC_000008.10:g.30999111A>G , CM000670.1:g.30999111A>G	GRCh37
NC_000008.9:g.31118653A>G	NCBI36
NG_008870.1:g.113334A>G , LRG_524:g.113334A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3133A>G MANE Select	ENSP00000298139.5:p.Lys1045Glu
ENST00000650667.1:c.*2747A>G	ENSP00000498593.1:n.*2747A>G
ENST00000298139.5:c.3133A>G	ENSP00000298139.5:p.Lys1045Glu
ENST00000521620.5:n.1766A>G
NM_000553.4:c.3133A>G , LRG_524t1:c.3133A>G	NP_000544.2:p.Lys1045Glu
XM_011544639.1:c.3052A>G	XP_011542941.1:p.Lys1018Glu
XM_011544640.1:c.1534A>G	XP_011542942.1:p.Lys512Glu
XR_949470.1:n.3406A>G
XR_949471.1:n.3406A>G
XR_949472.1:n.3406A>G
NM_000553.5:c.3133A>G	NP_000544.2:p.Lys1045Glu
XM_011544639.3:c.3052A>G	XP_011542941.1:p.Lys1018Glu
XM_024447265.1:c.2923A>G	XP_024303033.1:p.Lys975Glu
XR_949470.3:n.3434A>G
XR_949471.3:n.3434A>G
XR_949472.3:n.3434A>G
NM_000553.6:c.3133A>G MANE Select	NP_000544.2:p.Lys1045Glu