Canonical Allele Identifier: CA2686839711

Gene: WRN

Linked Data

• gnomAD v4: 8-31147208-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147208C>T , CM000670.2:g.31147208C>T	GRCh38
NC_000008.10:g.31004724C>T , CM000670.1:g.31004724C>T	GRCh37
NC_000008.9:g.31124266C>T	NCBI36
NG_008870.1:g.118947C>T , LRG_524:g.118947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3459+80C>T MANE Select	ENSP00000298139.5:n.3459+80C>T
ENST00000650667.1:c.*3073+80C>T	ENSP00000498593.1:n.*3073+80C>T
ENST00000298139.5:c.3459+80C>T	ENSP00000298139.5:n.3459+80C>T
ENST00000521620.5:n.2092+80C>T
NM_000553.4:c.3459+80C>T , LRG_524t1:c.3459+80C>T	NP_000544.2:n.3459+80C>T
XM_011544639.1:c.3378+80C>T	XP_011542941.1:n.3378+80C>T
XM_011544640.1:c.1860+80C>T	XP_011542942.1:n.1860+80C>T
XR_949470.1:n.3732+80C>T
XR_949471.1:n.3732+80C>T
XR_949472.1:n.3732+80C>T
XR_949643.1:n.614+1300G>A
NM_000553.5:c.3459+80C>T	NP_000544.2:n.3459+80C>T
XM_011544639.3:c.3378+80C>T	XP_011542941.1:n.3378+80C>T
XM_024447265.1:c.3249+80C>T	XP_024303033.1:n.3249+80C>T
XR_949470.3:n.3760+80C>T
XR_949471.3:n.3760+80C>T
XR_949472.3:n.3760+80C>T
NM_000553.6:c.3459+80C>T MANE Select	NP_000544.2:n.3459+80C>T