Canonical Allele Identifier: CA370923121

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.30999261A>C (hg19) ; chr8:g.31141745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141745A>C , CM000670.2:g.31141745A>C	GRCh38
NC_000008.10:g.30999261A>C , CM000670.1:g.30999261A>C	GRCh37
NC_000008.9:g.31118803A>C	NCBI36
NG_008870.1:g.113484A>C , LRG_524:g.113484A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3203A>C MANE Select	ENSP00000298139.5:p.Glu1068Ala
ENST00000650667.1:c.*2817A>C	ENSP00000498593.1:n.*2817A>C
ENST00000298139.5:c.3203A>C	ENSP00000298139.5:p.Glu1068Ala
ENST00000521620.5:n.1836A>C
NM_000553.4:c.3203A>C , LRG_524t1:c.3203A>C	NP_000544.2:p.Glu1068Ala
XM_011544639.1:c.3122A>C	XP_011542941.1:p.Glu1041Ala
XM_011544640.1:c.1604A>C	XP_011542942.1:p.Glu535Ala
XR_949470.1:n.3476A>C
XR_949471.1:n.3476A>C
XR_949472.1:n.3476A>C
NM_000553.5:c.3203A>C	NP_000544.2:p.Glu1068Ala
XM_011544639.3:c.3122A>C	XP_011542941.1:p.Glu1041Ala
XM_024447265.1:c.2993A>C	XP_024303033.1:p.Glu998Ala
XR_949470.3:n.3504A>C
XR_949471.3:n.3504A>C
XR_949472.3:n.3504A>C
NM_000553.6:c.3203A>C MANE Select	NP_000544.2:p.Glu1068Ala