Canonical Allele Identifier: CA370916063

Gene: WRN

Linked Data

• dbSNP Id: rs1171906616
• gnomAD v2: 8-30924607-A-G
• gnomAD v4: 8-31067091-A-G
• MyVariant Identifiers: chr8:g.30924607A>G (hg19) ; chr8:g.31067091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067091A>G , CM000670.2:g.31067091A>G	GRCh38
NC_000008.10:g.30924607A>G , CM000670.1:g.30924607A>G	GRCh37
NC_000008.9:g.31044149A>G	NCBI36
NG_008870.1:g.38830A>G , LRG_524:g.38830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.563A>G MANE Select	ENSP00000298139.5:p.Gln188Arg
ENST00000650667.1:c.*177A>G	ENSP00000498593.1:n.*177A>G
ENST00000298139.5:c.563A>G	ENSP00000298139.5:p.Gln188Arg
NM_000553.4:c.563A>G , LRG_524t1:c.563A>G	NP_000544.2:p.Gln188Arg
XM_011544639.1:c.563A>G	XP_011542941.1:p.Gln188Arg
XR_949470.1:n.836A>G
XR_949471.1:n.836A>G
XR_949472.1:n.836A>G
NM_000553.5:c.563A>G	NP_000544.2:p.Gln188Arg
XM_011544639.3:c.563A>G	XP_011542941.1:p.Gln188Arg
XM_024447265.1:c.353A>G	XP_024303033.1:p.Gln118Arg
XR_949470.3:n.864A>G
XR_949471.3:n.864A>G
XR_949472.3:n.864A>G
NM_000553.6:c.563A>G MANE Select	NP_000544.2:p.Gln188Arg