Canonical Allele Identifier: CA162728
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 135426
dbSNP Id: rs143954702
gnomAD v2: 8-30999075-C-T
gnomAD v3: 8-31141559-C-T
gnomAD v4: 8-31141559-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141559C>T , CM000670.2:g.31141559C>T GRCh38
NC_000008.10:g.30999075C>T , CM000670.1:g.30999075C>T GRCh37
NC_000008.9:g.31118617C>T NCBI36
NG_008870.1:g.113298C>T , LRG_524:g.113298C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298139.7:c.3097C>T MANE Select ENSP00000298139.5:p.Arg1033Trp
ENST00000650667.1:c.*2711C>T ENSP00000498593.1:n.*2711C>T
ENST00000298139.5:c.3097C>T ENSP00000298139.5:p.Arg1033Trp
ENST00000521620.5:n.1730C>T
NM_000553.4:c.3097C>T , LRG_524t1:c.3097C>T NP_000544.2:p.Arg1033Trp
XM_011544639.1:c.3016C>T XP_011542941.1:p.Arg1006Trp
XM_011544640.1:c.1498C>T XP_011542942.1:p.Arg500Trp
XR_949470.1:n.3370C>T
XR_949471.1:n.3370C>T
XR_949472.1:n.3370C>T
NM_000553.5:c.3097C>T NP_000544.2:p.Arg1033Trp
XM_011544639.3:c.3016C>T XP_011542941.1:p.Arg1006Trp
XM_024447265.1:c.2887C>T XP_024303033.1:p.Arg963Trp
XR_949470.3:n.3398C>T
XR_949471.3:n.3398C>T
XR_949472.3:n.3398C>T
NM_000553.6:c.3097C>T MANE Select NP_000544.2:p.Arg1033Trp