Canonical Allele Identifier: CA580995271
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1192726674
gnomAD v2: 8-30924505-A-G
gnomAD v4: 8-31066989-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31066989A>G , CM000670.2:g.31066989A>G GRCh38
NC_000008.10:g.30924505A>G , CM000670.1:g.30924505A>G GRCh37
NC_000008.9:g.31044047A>G NCBI36
NG_008870.1:g.38728A>G , LRG_524:g.38728A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.505-44A>G MANE Select ENSP00000298139.5:n.505-44A>G
ENST00000650667.1:c.*119-44A>G ENSP00000498593.1:n.*119-44A>G
ENST00000298139.5:c.505-44A>G ENSP00000298139.5:n.505-44A>G
NM_000553.4:c.505-44A>G , LRG_524t1:c.505-44A>G NP_000544.2:n.505-44A>G
XM_011544639.1:c.505-44A>G XP_011542941.1:n.505-44A>G
XR_949470.1:n.778-44A>G
XR_949471.1:n.778-44A>G
XR_949472.1:n.778-44A>G
NM_000553.5:c.505-44A>G NP_000544.2:n.505-44A>G
XM_011544639.3:c.505-44A>G XP_011542941.1:n.505-44A>G
XM_024447265.1:c.295-44A>G XP_024303033.1:n.295-44A>G
XR_949470.3:n.806-44A>G
XR_949471.3:n.806-44A>G
XR_949472.3:n.806-44A>G
NM_000553.6:c.505-44A>G MANE Select NP_000544.2:n.505-44A>G