Canonical Allele Identifier: CA370925468

Gene: WRN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147111C>T , CM000670.2:g.31147111C>T	GRCh38
NC_000008.10:g.31004627C>T , CM000670.1:g.31004627C>T	GRCh37
NC_000008.9:g.31124169C>T	NCBI36
NG_008870.1:g.118850C>T , LRG_524:g.118850C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000553.6:c.3442C>T MANE Select	NP_000544.2:p.Gln1148Ter
ENST00000298139.7:c.3442C>T MANE Select	ENSP00000298139.5:p.Gln1148Ter
NM_000553.4:c.3442C>T , LRG_524t1:c.3442C>T	NP_000544.2:p.Gln1148Ter
NM_000553.5:c.3442C>T	NP_000544.2:p.Gln1148Ter
ENST00000298139.5:c.3442C>T	ENSP00000298139.5:p.Gln1148Ter
ENST00000521620.5:n.2075C>T
ENST00000650667.1:c.*3056C>T	ENSP00000498593.1:n.*3056C>T
XM_011544639.1:c.3361C>T	XP_011542941.1:p.Gln1121Ter
XM_011544639.3:c.3361C>T	XP_011542941.1:p.Gln1121Ter
XM_011544640.1:c.1843C>T	XP_011542942.1:p.Gln615Ter
XM_024447265.1:c.3232C>T	XP_024303033.1:p.Gln1078Ter
XR_949470.1:n.3715C>T
XR_949470.3:n.3743C>T
XR_949471.1:n.3715C>T
XR_949471.3:n.3743C>T
XR_949472.1:n.3715C>T
XR_949472.3:n.3743C>T
XR_949643.1:n.614+1397G>A