Canonical Allele Identifier: CA370916870

Gene: WRN

Linked Data

• gnomAD v4: 8-31068261-G-T
• MyVariant Identifiers: chr8:g.30925777G>T (hg19) ; chr8:g.31068261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31068261G>T , CM000670.2:g.31068261G>T	GRCh38
NC_000008.10:g.30925777G>T , CM000670.1:g.30925777G>T	GRCh37
NC_000008.9:g.31045319G>T	NCBI36
NG_008870.1:g.40000G>T , LRG_524:g.40000G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.658G>T MANE Select	ENSP00000298139.5:p.Gly220Cys
ENST00000650667.1:c.*272G>T	ENSP00000498593.1:n.*272G>T
ENST00000298139.5:c.658G>T	ENSP00000298139.5:p.Gly220Cys
NM_000553.4:c.658G>T , LRG_524t1:c.658G>T	NP_000544.2:p.Gly220Cys
XM_011544639.1:c.658G>T	XP_011542941.1:p.Gly220Cys
XR_949470.1:n.931G>T
XR_949471.1:n.931G>T
XR_949472.1:n.931G>T
NM_000553.5:c.658G>T	NP_000544.2:p.Gly220Cys
XM_011544639.3:c.658G>T	XP_011542941.1:p.Gly220Cys
XM_024447265.1:c.448G>T	XP_024303033.1:p.Gly150Cys
XR_949470.3:n.959G>T
XR_949471.3:n.959G>T
XR_949472.3:n.959G>T
NM_000553.6:c.658G>T MANE Select	NP_000544.2:p.Gly220Cys