Canonical Allele Identifier: CA4704812
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31124556C>T
GRCh37 chr8:g.30982072C>T
gnomAD v2:
8:30982072 C / T
gnomAD v4:
chr8-31124556-C-T
Joint Max Group AF 0.00000876 (SAS)
Exomes Max Group AF 0.00000925 (SAS)
ClinVar RCV:
RCV000456191
RCV001580038
ClinVar Variation:
404045
dbSNP:
774765029
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31124556C>T , CM000670.2:g.31124556C>T GRCh38
NC_000008.10:g.30982072C>T , CM000670.1:g.30982072C>T GRCh37
NC_000008.9:g.31101614C>T NCBI36
NG_008870.1:g.96295C>T , LRG_524:g.96295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2665C>T MANE Select ENSP00000298139.5:p.Arg889Ter
ENST00000650667.1:c.*2279C>T ENSP00000498593.1:n.*2279C>T
ENST00000298139.5:c.2665C>T ENSP00000298139.5:p.Arg889Ter
ENST00000520169.1:n.504C>T
ENST00000521620.5:n.1298C>T
NM_000553.4:c.2665C>T , LRG_524t1:c.2665C>T NP_000544.2:p.Arg889Ter
XM_011544639.1:c.2584C>T XP_011542941.1:p.Arg862Ter
XM_011544640.1:c.1066C>T XP_011542942.1:p.Arg356Ter
XR_949470.1:n.2938C>T
XR_949471.1:n.2938C>T
XR_949472.1:n.2938C>T
NM_000553.5:c.2665C>T NP_000544.2:p.Arg889Ter
XM_011544639.3:c.2584C>T XP_011542941.1:p.Arg862Ter
XM_024447265.1:c.2455C>T XP_024303033.1:p.Arg819Ter
XR_949470.3:n.2966C>T
XR_949471.3:n.2966C>T
XR_949472.3:n.2966C>T
NM_000553.6:c.2665C>T MANE Select NP_000544.2:p.Arg889Ter
Search 100 bp 5'
Search 100 bp 3'