Canonical Allele Identifier: CA1112381165
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1812747532
gnomAD v3: 8-31067268-G-A
gnomAD v4: 8-31067268-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067268G>A , CM000670.2:g.31067268G>A GRCh38
NC_000008.10:g.30924784G>A , CM000670.1:g.30924784G>A GRCh37
NC_000008.9:g.31044326G>A NCBI36
NG_008870.1:g.39007G>A , LRG_524:g.39007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.654+86G>A MANE Select ENSP00000298139.5:n.654+86G>A
ENST00000650667.1:c.*268+86G>A ENSP00000498593.1:n.*268+86G>A
ENST00000298139.5:c.654+86G>A ENSP00000298139.5:n.654+86G>A
NM_000553.4:c.654+86G>A , LRG_524t1:c.654+86G>A NP_000544.2:n.654+86G>A
XM_011544639.1:c.654+86G>A XP_011542941.1:n.654+86G>A
XR_949470.1:n.927+86G>A
XR_949471.1:n.927+86G>A
XR_949472.1:n.927+86G>A
NM_000553.5:c.654+86G>A NP_000544.2:n.654+86G>A
XM_011544639.3:c.654+86G>A XP_011542941.1:n.654+86G>A
XM_024447265.1:c.444+86G>A XP_024303033.1:n.444+86G>A
XR_949470.3:n.955+86G>A
XR_949471.3:n.955+86G>A
XR_949472.3:n.955+86G>A
NM_000553.6:c.654+86G>A MANE Select NP_000544.2:n.654+86G>A