Canonical Allele Identifier: CA2739279016
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2809632
ClinVar RCV Id: RCV003613593

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31147136T>G , CM000670.2:g.31147136T>G GRCh38
NC_000008.10:g.31004652T>G , CM000670.1:g.31004652T>G GRCh37
NC_000008.9:g.31124194T>G NCBI36
NG_008870.1:g.118875T>G , LRG_524:g.118875T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3459+8T>G MANE Select ENSP00000298139.5:n.3459+8T>G
ENST00000650667.1:c.*3073+8T>G ENSP00000498593.1:n.*3073+8T>G
ENST00000298139.5:c.3459+8T>G ENSP00000298139.5:n.3459+8T>G
ENST00000521620.5:n.2092+8T>G
NM_000553.4:c.3459+8T>G , LRG_524t1:c.3459+8T>G NP_000544.2:n.3459+8T>G
XM_011544639.1:c.3378+8T>G XP_011542941.1:n.3378+8T>G
XM_011544640.1:c.1860+8T>G XP_011542942.1:n.1860+8T>G
XR_949470.1:n.3732+8T>G
XR_949471.1:n.3732+8T>G
XR_949472.1:n.3732+8T>G
XR_949643.1:n.614+1372A>C
NM_000553.5:c.3459+8T>G NP_000544.2:n.3459+8T>G
XM_011544639.3:c.3378+8T>G XP_011542941.1:n.3378+8T>G
XM_024447265.1:c.3249+8T>G XP_024303033.1:n.3249+8T>G
XR_949470.3:n.3760+8T>G
XR_949471.3:n.3760+8T>G
XR_949472.3:n.3760+8T>G
NM_000553.6:c.3459+8T>G MANE Select NP_000544.2:n.3459+8T>G