Canonical Allele Identifier: CA460225130

Gene: WRN

Linked Data

• ClinVar Variation Id: 699522
• ClinVar RCV Id: RCV001461628
• dbSNP Id: rs1171624310
• gnomAD v2: 8-31012154-A-G
• gnomAD v4: 8-31154638-A-G
• MyVariant Identifiers: chr8:g.31012154A>G (hg19) ; chr8:g.31154638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154638A>G , CM000670.2:g.31154638A>G	GRCh38
NC_000008.10:g.31012154A>G , CM000670.1:g.31012154A>G	GRCh37
NC_000008.9:g.31131696A>G	NCBI36
NG_008870.1:g.126377A>G , LRG_524:g.126377A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3702A>G MANE Select	ENSP00000298139.5:p.Ser1234=
ENST00000650667.1:c.*3316A>G	ENSP00000498593.1:n.*3316A>G
ENST00000298139.5:c.3702A>G	ENSP00000298139.5:p.Ser1234=
ENST00000521620.5:n.2335A>G
NM_000553.4:c.3702A>G , LRG_524t1:c.3702A>G	NP_000544.2:p.Ser1234=
XM_011544639.1:c.3621A>G	XP_011542941.1:p.Ser1207=
XM_011544640.1:c.2103A>G	XP_011542942.1:p.Ser701=
XR_949470.1:n.3975A>G
XR_949471.1:n.3975A>G
XR_949472.1:n.3975A>G
XR_949643.1:n.457-5973T>C
XR_949644.1:n.381-5973T>C
XR_949647.1:n.1070-5973T>C
XR_949648.1:n.972-5973T>C
NM_000553.5:c.3702A>G	NP_000544.2:p.Ser1234=
XM_011544639.3:c.3621A>G	XP_011542941.1:p.Ser1207=
XM_024447265.1:c.3492A>G	XP_024303033.1:p.Ser1164=
XR_949470.3:n.4003A>G
XR_949471.3:n.4003A>G
XR_949472.3:n.4003A>G
NM_000553.6:c.3702A>G MANE Select	NP_000544.2:p.Ser1234=