Canonical Allele Identifier: CA4705216
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157520C>T , CM000670.2:g.31157520C>T GRCh38
NC_000008.10:g.31015036C>T , CM000670.1:g.31015036C>T GRCh37
NC_000008.9:g.31134578C>T NCBI36
NG_008870.1:g.129259C>T , LRG_524:g.129259C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3972C>T MANE Select ENSP00000298139.5:p.Pro1324=
ENST00000650667.1:c.*3586C>T ENSP00000498593.1:n.*3586C>T
ENST00000298139.5:c.3972C>T ENSP00000298139.5:p.Pro1324=
ENST00000521620.5:n.2605C>T
NM_000553.4:c.3972C>T , LRG_524t1:c.3972C>T NP_000544.2:p.Pro1324=
XM_011544639.1:c.3891C>T XP_011542941.1:p.Pro1297=
XM_011544640.1:c.2373C>T XP_011542942.1:p.Pro791=
XR_949470.1:n.4245C>T
XR_949471.1:n.4245C>T
XR_949472.1:n.4245C>T
XR_949643.1:n.457-8855G>A
XR_949644.1:n.381-8855G>A
XR_949647.1:n.1070-8855G>A
XR_949648.1:n.972-8855G>A
NM_000553.5:c.3972C>T NP_000544.2:p.Pro1324=
XM_011544639.3:c.3891C>T XP_011542941.1:p.Pro1297=
XM_024447265.1:c.3762C>T XP_024303033.1:p.Pro1254=
XR_949470.3:n.4273C>T
XR_949471.3:n.4273C>T
XR_949472.3:n.4273C>T
NM_000553.6:c.3972C>T MANE Select NP_000544.2:p.Pro1324=