Canonical Allele Identifier: CA174904682

Gene: WRN

Linked Data

• dbSNP Id: rs868755903
• MyVariant Identifiers: chr8:g.31004624G>A (hg19) ; chr8:g.31147108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147108G>A , CM000670.2:g.31147108G>A	GRCh38
NC_000008.10:g.31004624G>A , CM000670.1:g.31004624G>A	GRCh37
NC_000008.9:g.31124166G>A	NCBI36
NG_008870.1:g.118847G>A , LRG_524:g.118847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3439G>A MANE Select	ENSP00000298139.5:p.Ala1147Thr
ENST00000650667.1:c.*3053G>A	ENSP00000498593.1:n.*3053G>A
ENST00000298139.5:c.3439G>A	ENSP00000298139.5:p.Ala1147Thr
ENST00000521620.5:n.2072G>A
NM_000553.4:c.3439G>A , LRG_524t1:c.3439G>A	NP_000544.2:p.Ala1147Thr
XM_011544639.1:c.3358G>A	XP_011542941.1:p.Ala1120Thr
XM_011544640.1:c.1840G>A	XP_011542942.1:p.Ala614Thr
XR_949470.1:n.3712G>A
XR_949471.1:n.3712G>A
XR_949472.1:n.3712G>A
XR_949643.1:n.614+1400C>T
NM_000553.5:c.3439G>A	NP_000544.2:p.Ala1147Thr
XM_011544639.3:c.3358G>A	XP_011542941.1:p.Ala1120Thr
XM_024447265.1:c.3229G>A	XP_024303033.1:p.Ala1077Thr
XR_949470.3:n.3740G>A
XR_949471.3:n.3740G>A
XR_949472.3:n.3740G>A
NM_000553.6:c.3439G>A MANE Select	NP_000544.2:p.Ala1147Thr