Canonical Allele Identifier: CA2739279011
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2848946
ClinVar RCV Id: RCV003614684

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141665T>C , CM000670.2:g.31141665T>C GRCh38
NC_000008.10:g.30999181T>C , CM000670.1:g.30999181T>C GRCh37
NC_000008.9:g.31118723T>C NCBI36
NG_008870.1:g.113404T>C , LRG_524:g.113404T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3139-16T>C MANE Select ENSP00000298139.5:n.3139-16T>C
ENST00000650667.1:c.*2753-16T>C ENSP00000498593.1:n.*2753-16T>C
ENST00000298139.5:c.3139-16T>C ENSP00000298139.5:n.3139-16T>C
ENST00000521620.5:n.1772-16T>C
NM_000553.4:c.3139-16T>C , LRG_524t1:c.3139-16T>C NP_000544.2:n.3139-16T>C
XM_011544639.1:c.3058-16T>C XP_011542941.1:n.3058-16T>C
XM_011544640.1:c.1540-16T>C XP_011542942.1:n.1540-16T>C
XR_949470.1:n.3412-16T>C
XR_949471.1:n.3412-16T>C
XR_949472.1:n.3412-16T>C
NM_000553.5:c.3139-16T>C NP_000544.2:n.3139-16T>C
XM_011544639.3:c.3058-16T>C XP_011542941.1:n.3058-16T>C
XM_024447265.1:c.2929-16T>C XP_024303033.1:n.2929-16T>C
XR_949470.3:n.3440-16T>C
XR_949471.3:n.3440-16T>C
XR_949472.3:n.3440-16T>C
NM_000553.6:c.3139-16T>C MANE Select NP_000544.2:n.3139-16T>C