Canonical Allele Identifier: CA4703996
Gene: WRN HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31059228G>A , CM000670.2:g.31059228G>A GRCh38
NC_000008.10:g.30916744G>A , CM000670.1:g.30916744G>A GRCh37
NC_000008.9:g.31036286G>A NCBI36
NG_008870.1:g.30967G>A , LRG_524:g.30967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.172G>A MANE Select ENSP00000298139.5:p.Asp58Asn
ENST00000650667.1:c.172G>A ENSP00000498593.1:p.Asp58Asn
ENST00000298139.5:c.172G>A ENSP00000298139.5:p.Asp58Asn
NM_000553.4:c.172G>A , LRG_524t1:c.172G>A NP_000544.2:p.Asp58Asn
XM_011544639.1:c.172G>A XP_011542941.1:p.Asp58Asn
XR_949470.1:n.445G>A
XR_949471.1:n.445G>A
XR_949472.1:n.445G>A
NM_000553.5:c.172G>A NP_000544.2:p.Asp58Asn
XM_011544639.3:c.172G>A XP_011542941.1:p.Asp58Asn
XM_024447265.1:c.-163G>A XP_024303033.1:n.-163G>A
XR_949470.3:n.473G>A
XR_949471.3:n.473G>A
XR_949472.3:n.473G>A
NM_000553.6:c.172G>A MANE Select NP_000544.2:p.Asp58Asn