Canonical Allele Identifier: CA370925780

Gene: WRN

Linked Data

• COSMIC: COSM4187464
• MyVariant Identifiers: chr8:g.31004917A>T (hg19) ; chr8:g.31147401A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147401A>T , CM000670.2:g.31147401A>T	GRCh38
NC_000008.10:g.31004917A>T , CM000670.1:g.31004917A>T	GRCh37
NC_000008.9:g.31124459A>T	NCBI36
NG_008870.1:g.119140A>T , LRG_524:g.119140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3497A>T MANE Select	ENSP00000298139.5:p.Lys1166Ile
ENST00000650667.1:c.*3111A>T	ENSP00000498593.1:n.*3111A>T
ENST00000298139.5:c.3497A>T	ENSP00000298139.5:p.Lys1166Ile
ENST00000521620.5:n.2130A>T
NM_000553.4:c.3497A>T , LRG_524t1:c.3497A>T	NP_000544.2:p.Lys1166Ile
XM_011544639.1:c.3416A>T	XP_011542941.1:p.Lys1139Ile
XM_011544640.1:c.1898A>T	XP_011542942.1:p.Lys633Ile
XR_949470.1:n.3770A>T
XR_949471.1:n.3770A>T
XR_949472.1:n.3770A>T
XR_949643.1:n.614+1107T>A
NM_000553.5:c.3497A>T	NP_000544.2:p.Lys1166Ile
XM_011544639.3:c.3416A>T	XP_011542941.1:p.Lys1139Ile
XM_024447265.1:c.3287A>T	XP_024303033.1:p.Lys1096Ile
XR_949470.3:n.3798A>T
XR_949471.3:n.3798A>T
XR_949472.3:n.3798A>T
NM_000553.6:c.3497A>T MANE Select	NP_000544.2:p.Lys1166Ile