Canonical Allele Identifier: CA4704137
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31068276C>T , CM000670.2:g.31068276C>T GRCh38
NC_000008.10:g.30925792C>T , CM000670.1:g.30925792C>T GRCh37
NC_000008.9:g.31045334C>T NCBI36
NG_008870.1:g.40015C>T , LRG_524:g.40015C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.673C>T MANE Select ENSP00000298139.5:p.Arg225Ter
ENST00000650667.1:c.*287C>T ENSP00000498593.1:n.*287C>T
ENST00000298139.5:c.673C>T ENSP00000298139.5:p.Arg225Ter
NM_000553.4:c.673C>T , LRG_524t1:c.673C>T NP_000544.2:p.Arg225Ter
XM_011544639.1:c.673C>T XP_011542941.1:p.Arg225Ter
XR_949470.1:n.946C>T
XR_949471.1:n.946C>T
XR_949472.1:n.946C>T
NM_000553.5:c.673C>T NP_000544.2:p.Arg225Ter
XM_011544639.3:c.673C>T XP_011542941.1:p.Arg225Ter
XM_024447265.1:c.463C>T XP_024303033.1:p.Arg155Ter
XR_949470.3:n.974C>T
XR_949471.3:n.974C>T
XR_949472.3:n.974C>T
NM_000553.6:c.673C>T MANE Select NP_000544.2:p.Arg225Ter