Canonical Allele Identifier: CA4704927
Gene: WRN HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141521G>A , CM000670.2:g.31141521G>A GRCh38
NC_000008.10:g.30999037G>A , CM000670.1:g.30999037G>A GRCh37
NC_000008.9:g.31118579G>A NCBI36
NG_008870.1:g.113260G>A , LRG_524:g.113260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3059G>A MANE Select ENSP00000298139.5:p.Arg1020His
ENST00000650667.1:c.*2673G>A ENSP00000498593.1:n.*2673G>A
ENST00000298139.5:c.3059G>A ENSP00000298139.5:p.Arg1020His
ENST00000521620.5:n.1692G>A
NM_000553.4:c.3059G>A , LRG_524t1:c.3059G>A NP_000544.2:p.Arg1020His
XM_011544639.1:c.2978G>A XP_011542941.1:p.Arg993His
XM_011544640.1:c.1460G>A XP_011542942.1:p.Arg487His
XR_949470.1:n.3332G>A
XR_949471.1:n.3332G>A
XR_949472.1:n.3332G>A
NM_000553.5:c.3059G>A NP_000544.2:p.Arg1020His
XM_011544639.3:c.2978G>A XP_011542941.1:p.Arg993His
XM_024447265.1:c.2849G>A XP_024303033.1:p.Arg950His
XR_949470.3:n.3360G>A
XR_949471.3:n.3360G>A
XR_949472.3:n.3360G>A
NM_000553.6:c.3059G>A MANE Select NP_000544.2:p.Arg1020His