Canonical Allele Identifier: CA2579137344
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1563331470
gnomAD v4: 8-31067240-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067240G>T , CM000670.2:g.31067240G>T GRCh38
NC_000008.10:g.30924756G>T , CM000670.1:g.30924756G>T GRCh37
NC_000008.9:g.31044298G>T NCBI36
NG_008870.1:g.38979G>T , LRG_524:g.38979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.654+58G>T MANE Select ENSP00000298139.5:n.654+58G>T
ENST00000650667.1:c.*268+58G>T ENSP00000498593.1:n.*268+58G>T
ENST00000298139.5:c.654+58G>T ENSP00000298139.5:n.654+58G>T
NM_000553.4:c.654+58G>T , LRG_524t1:c.654+58G>T NP_000544.2:n.654+58G>T
XM_011544639.1:c.654+58G>T XP_011542941.1:n.654+58G>T
XR_949470.1:n.927+58G>T
XR_949471.1:n.927+58G>T
XR_949472.1:n.927+58G>T
NM_000553.5:c.654+58G>T NP_000544.2:n.654+58G>T
XM_011544639.3:c.654+58G>T XP_011542941.1:n.654+58G>T
XM_024447265.1:c.444+58G>T XP_024303033.1:n.444+58G>T
XR_949470.3:n.955+58G>T
XR_949471.3:n.955+58G>T
XR_949472.3:n.955+58G>T
NM_000553.6:c.654+58G>T MANE Select NP_000544.2:n.654+58G>T