Canonical Allele Identifier: CA370916295

Gene: WRN

Linked Data

• COSMIC: COSM6113021
• MyVariant Identifiers: chr8:g.30924661C>T (hg19) ; chr8:g.31067145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067145C>T , CM000670.2:g.31067145C>T	GRCh38
NC_000008.10:g.30924661C>T , CM000670.1:g.30924661C>T	GRCh37
NC_000008.9:g.31044203C>T	NCBI36
NG_008870.1:g.38884C>T , LRG_524:g.38884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.617C>T MANE Select	ENSP00000298139.5:p.Thr206Ile
ENST00000650667.1:c.*231C>T	ENSP00000498593.1:n.*231C>T
ENST00000298139.5:c.617C>T	ENSP00000298139.5:p.Thr206Ile
NM_000553.4:c.617C>T , LRG_524t1:c.617C>T	NP_000544.2:p.Thr206Ile
XM_011544639.1:c.617C>T	XP_011542941.1:p.Thr206Ile
XR_949470.1:n.890C>T
XR_949471.1:n.890C>T
XR_949472.1:n.890C>T
NM_000553.5:c.617C>T	NP_000544.2:p.Thr206Ile
XM_011544639.3:c.617C>T	XP_011542941.1:p.Thr206Ile
XM_024447265.1:c.407C>T	XP_024303033.1:p.Thr136Ile
XR_949470.3:n.918C>T
XR_949471.3:n.918C>T
XR_949472.3:n.918C>T
NM_000553.6:c.617C>T MANE Select	NP_000544.2:p.Thr206Ile