Canonical Allele Identifier: CA370925794

Gene: WRN

Linked Data

• gnomAD v4: 8-31147405-T-G
• MyVariant Identifiers: chr8:g.31004921T>G (hg19) ; chr8:g.31147405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147405T>G , CM000670.2:g.31147405T>G	GRCh38
NC_000008.10:g.31004921T>G , CM000670.1:g.31004921T>G	GRCh37
NC_000008.9:g.31124463T>G	NCBI36
NG_008870.1:g.119144T>G , LRG_524:g.119144T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3501T>G MANE Select	ENSP00000298139.5:p.His1167Gln
ENST00000650667.1:c.*3115T>G	ENSP00000498593.1:n.*3115T>G
ENST00000298139.5:c.3501T>G	ENSP00000298139.5:p.His1167Gln
ENST00000521620.5:n.2134T>G
NM_000553.4:c.3501T>G , LRG_524t1:c.3501T>G	NP_000544.2:p.His1167Gln
XM_011544639.1:c.3420T>G	XP_011542941.1:p.His1140Gln
XM_011544640.1:c.1902T>G	XP_011542942.1:p.His634Gln
XR_949470.1:n.3774T>G
XR_949471.1:n.3774T>G
XR_949472.1:n.3774T>G
XR_949643.1:n.614+1103A>C
NM_000553.5:c.3501T>G	NP_000544.2:p.His1167Gln
XM_011544639.3:c.3420T>G	XP_011542941.1:p.His1140Gln
XM_024447265.1:c.3291T>G	XP_024303033.1:p.His1097Gln
XR_949470.3:n.3802T>G
XR_949471.3:n.3802T>G
XR_949472.3:n.3802T>G
NM_000553.6:c.3501T>G MANE Select	NP_000544.2:p.His1167Gln