Canonical Allele Identifier: CA370909495
Gene: WRN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31167138T>A , CM000670.2:g.31167138T>A GRCh38
NC_000008.10:g.31024654T>A , CM000670.1:g.31024654T>A GRCh37
NC_000008.9:g.31144196T>A NCBI36
NG_008870.1:g.138877T>A , LRG_524:g.138877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4099T>A MANE Select ENSP00000298139.5:p.Cys1367Ser
ENST00000650667.1:c.*3713T>A ENSP00000498593.1:n.*3713T>A
ENST00000651946.1:n.323T>A
ENST00000298139.5:c.4099T>A ENSP00000298139.5:p.Cys1367Ser
ENST00000521620.5:n.2732T>A
NM_000553.4:c.4099T>A , LRG_524t1:c.4099T>A NP_000544.2:p.Cys1367Ser
XM_011544639.1:c.4018T>A XP_011542941.1:p.Cys1340Ser
XM_011544640.1:c.2500T>A XP_011542942.1:p.Cys834Ser
XR_949643.1:n.320A>T
XR_949644.1:n.320A>T
XR_949645.1:n.320A>T
XR_949646.1:n.320A>T
XR_949647.1:n.933A>T
XR_949648.1:n.835A>T
NM_000553.5:c.4099T>A NP_000544.2:p.Cys1367Ser
XM_011544639.3:c.4018T>A XP_011542941.1:p.Cys1340Ser
XM_024447265.1:c.3889T>A XP_024303033.1:p.Cys1297Ser
NM_000553.6:c.4099T>A MANE Select NP_000544.2:p.Cys1367Ser