Canonical Allele Identifier: CA4704170
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31076283C>T , CM000670.2:g.31076283C>T GRCh38
NC_000008.10:g.30933799C>T , CM000670.1:g.30933799C>T GRCh37
NC_000008.9:g.31053341C>T NCBI36
NG_008870.1:g.48022C>T , LRG_524:g.48022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.835C>T MANE Select ENSP00000298139.5:p.Arg279Trp
ENST00000650667.1:c.*449C>T ENSP00000498593.1:n.*449C>T
ENST00000651642.1:c.130C>T ENSP00000498779.1:p.Arg44Trp
ENST00000298139.5:c.835C>T ENSP00000298139.5:p.Arg279Trp
NM_000553.4:c.835C>T , LRG_524t1:c.835C>T NP_000544.2:p.Arg279Trp
XM_011544639.1:c.835C>T XP_011542941.1:p.Arg279Trp
XR_949470.1:n.1108C>T
XR_949471.1:n.1108C>T
XR_949472.1:n.1108C>T
NM_000553.5:c.835C>T NP_000544.2:p.Arg279Trp
XM_011544639.3:c.835C>T XP_011542941.1:p.Arg279Trp
XM_024447265.1:c.625C>T XP_024303033.1:p.Arg209Trp
XR_949470.3:n.1136C>T
XR_949471.3:n.1136C>T
XR_949472.3:n.1136C>T
NM_000553.6:c.835C>T MANE Select NP_000544.2:p.Arg279Trp