Canonical Allele Identifier: CA850742131
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1341813888
gnomAD v3: 8-31147315-A-G
gnomAD v4: 8-31147315-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147315A>G , CM000670.2:g.31147315A>G GRCh38
NC_000008.10:g.31004831A>G , CM000670.1:g.31004831A>G GRCh37
NC_000008.9:g.31124373A>G NCBI36
NG_008870.1:g.119054A>G , LRG_524:g.119054A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3460-49A>G MANE Select ENSP00000298139.5:n.3460-49A>G
ENST00000650667.1:c.*3074-49A>G ENSP00000498593.1:n.*3074-49A>G
ENST00000298139.5:c.3460-49A>G ENSP00000298139.5:n.3460-49A>G
ENST00000521620.5:n.2093-49A>G
NM_000553.4:c.3460-49A>G , LRG_524t1:c.3460-49A>G NP_000544.2:n.3460-49A>G
XM_011544639.1:c.3379-49A>G XP_011542941.1:n.3379-49A>G
XM_011544640.1:c.1861-49A>G XP_011542942.1:n.1861-49A>G
XR_949470.1:n.3733-49A>G
XR_949471.1:n.3733-49A>G
XR_949472.1:n.3733-49A>G
XR_949643.1:n.614+1193T>C
NM_000553.5:c.3460-49A>G NP_000544.2:n.3460-49A>G
XM_011544639.3:c.3379-49A>G XP_011542941.1:n.3379-49A>G
XM_024447265.1:c.3250-49A>G XP_024303033.1:n.3250-49A>G
XR_949470.3:n.3761-49A>G
XR_949471.3:n.3761-49A>G
XR_949472.3:n.3761-49A>G
NM_000553.6:c.3460-49A>G MANE Select NP_000544.2:n.3460-49A>G