Canonical Allele Identifier: CA1112381140
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1812743499
gnomAD v3: 8-31067191-T-C
gnomAD v4: 8-31067191-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067191T>C , CM000670.2:g.31067191T>C GRCh38
NC_000008.10:g.30924707T>C , CM000670.1:g.30924707T>C GRCh37
NC_000008.9:g.31044249T>C NCBI36
NG_008870.1:g.38930T>C , LRG_524:g.38930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.654+9T>C MANE Select ENSP00000298139.5:n.654+9T>C
ENST00000650667.1:c.*268+9T>C ENSP00000498593.1:n.*268+9T>C
ENST00000298139.5:c.654+9T>C ENSP00000298139.5:n.654+9T>C
NM_000553.4:c.654+9T>C , LRG_524t1:c.654+9T>C NP_000544.2:n.654+9T>C
XM_011544639.1:c.654+9T>C XP_011542941.1:n.654+9T>C
XR_949470.1:n.927+9T>C
XR_949471.1:n.927+9T>C
XR_949472.1:n.927+9T>C
NM_000553.5:c.654+9T>C NP_000544.2:n.654+9T>C
XM_011544639.3:c.654+9T>C XP_011542941.1:n.654+9T>C
XM_024447265.1:c.444+9T>C XP_024303033.1:n.444+9T>C
XR_949470.3:n.955+9T>C
XR_949471.3:n.955+9T>C
XR_949472.3:n.955+9T>C
NM_000553.6:c.654+9T>C MANE Select NP_000544.2:n.654+9T>C