Canonical Allele Identifier: CA4704672
Gene: WRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31111747C>T , CM000670.2:g.31111747C>T GRCh38
NC_000008.10:g.30969263C>T , CM000670.1:g.30969263C>T GRCh37
NC_000008.9:g.31088805C>T NCBI36
NG_008870.1:g.83486C>T , LRG_524:g.83486C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2221C>T MANE Select ENSP00000298139.5:p.Arg741Ter
ENST00000650667.1:c.*1835C>T ENSP00000498593.1:n.*1835C>T
ENST00000298139.5:c.2221C>T ENSP00000298139.5:p.Arg741Ter
ENST00000521620.5:n.854C>T
NM_000553.4:c.2221C>T , LRG_524t1:c.2221C>T NP_000544.2:p.Arg741Ter
XM_011544639.1:c.2140C>T XP_011542941.1:p.Arg714Ter
XM_011544640.1:c.622C>T XP_011542942.1:p.Arg208Ter
XR_949470.1:n.2494C>T
XR_949471.1:n.2494C>T
XR_949472.1:n.2494C>T
NM_000553.5:c.2221C>T NP_000544.2:p.Arg741Ter
XM_011544639.3:c.2140C>T XP_011542941.1:p.Arg714Ter
XM_024447265.1:c.2011C>T XP_024303033.1:p.Arg671Ter
XR_949470.3:n.2522C>T
XR_949471.3:n.2522C>T
XR_949472.3:n.2522C>T
NM_000553.6:c.2221C>T MANE Select NP_000544.2:p.Arg741Ter