Canonical Allele Identifier: CA2686839725
Gene: WRN HGNC NCBI

Linked Data

gnomAD v4: 8-31147243-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147243G>T , CM000670.2:g.31147243G>T GRCh38
NC_000008.10:g.31004759G>T , CM000670.1:g.31004759G>T GRCh37
NC_000008.9:g.31124301G>T NCBI36
NG_008870.1:g.118982G>T , LRG_524:g.118982G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3459+115G>T MANE Select ENSP00000298139.5:n.3459+115G>T
ENST00000650667.1:c.*3073+115G>T ENSP00000498593.1:n.*3073+115G>T
ENST00000298139.5:c.3459+115G>T ENSP00000298139.5:n.3459+115G>T
ENST00000521620.5:n.2092+115G>T
NM_000553.4:c.3459+115G>T , LRG_524t1:c.3459+115G>T NP_000544.2:n.3459+115G>T
XM_011544639.1:c.3378+115G>T XP_011542941.1:n.3378+115G>T
XM_011544640.1:c.1860+115G>T XP_011542942.1:n.1860+115G>T
XR_949470.1:n.3732+115G>T
XR_949471.1:n.3732+115G>T
XR_949472.1:n.3732+115G>T
XR_949643.1:n.614+1265C>A
NM_000553.5:c.3459+115G>T NP_000544.2:n.3459+115G>T
XM_011544639.3:c.3378+115G>T XP_011542941.1:n.3378+115G>T
XM_024447265.1:c.3249+115G>T XP_024303033.1:n.3249+115G>T
XR_949470.3:n.3760+115G>T
XR_949471.3:n.3760+115G>T
XR_949472.3:n.3760+115G>T
NM_000553.6:c.3459+115G>T MANE Select NP_000544.2:n.3459+115G>T