Canonical Allele Identifier: CA2686840589
Gene: WRN HGNC NCBI

Linked Data

gnomAD v4: 8-31172948-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31172948C>G , CM000670.2:g.31172948C>G GRCh38
NC_000008.10:g.31030464C>G , CM000670.1:g.31030464C>G GRCh37
NC_000008.9:g.31150006C>G NCBI36
NG_008870.1:g.144687C>G , LRG_524:g.144687C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4192-47C>G MANE Select ENSP00000298139.5:n.4192-47C>G
ENST00000650667.1:c.*3806-47C>G ENSP00000498593.1:n.*3806-47C>G
ENST00000651946.1:n.416-47C>G
ENST00000298139.5:c.4192-47C>G ENSP00000298139.5:n.4192-47C>G
ENST00000521620.5:n.2825-47C>G
NM_000553.4:c.4192-47C>G , LRG_524t1:c.4192-47C>G NP_000544.2:n.4192-47C>G
XM_011544639.1:c.4111-47C>G XP_011542941.1:n.4111-47C>G
XM_011544640.1:c.2593-47C>G XP_011542942.1:n.2593-47C>G
XR_949643.1:n.88-1630G>C
XR_949644.1:n.88-1630G>C
XR_949645.1:n.88-1630G>C
XR_949646.1:n.88-1630G>C
XR_949647.1:n.701-1630G>C
XR_949648.1:n.603-1630G>C
NM_000553.5:c.4192-47C>G NP_000544.2:n.4192-47C>G
XM_011544639.3:c.4111-47C>G XP_011542941.1:n.4111-47C>G
XM_024447265.1:c.3982-47C>G XP_024303033.1:n.3982-47C>G
NM_000553.6:c.4192-47C>G MANE Select NP_000544.2:n.4192-47C>G