Canonical Allele Identifier: CA4705313
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 403982
ClinVar RCV Id: RCV000475184
dbSNP Id: rs61751045
gnomAD v2: 8-31030599-G-C
gnomAD v3: 8-31173083-G-C
gnomAD v4: 8-31173083-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31173083G>C , CM000670.2:g.31173083G>C GRCh38
NC_000008.10:g.31030599G>C , CM000670.1:g.31030599G>C GRCh37
NC_000008.9:g.31150141G>C NCBI36
NG_008870.1:g.144822G>C , LRG_524:g.144822G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4280G>C MANE Select ENSP00000298139.5:p.Arg1427Thr
ENST00000650667.1:c.*3894G>C ENSP00000498593.1:n.*3894G>C
ENST00000651946.1:n.504G>C
ENST00000298139.5:c.4280G>C ENSP00000298139.5:p.Arg1427Thr
ENST00000521620.5:n.2913G>C
NM_000553.4:c.4280G>C , LRG_524t1:c.4280G>C NP_000544.2:p.Arg1427Thr
XM_011544639.1:c.4199G>C XP_011542941.1:p.Arg1400Thr
XM_011544640.1:c.2681G>C XP_011542942.1:p.Arg894Thr
XR_949643.1:n.88-1765C>G
XR_949644.1:n.88-1765C>G
XR_949645.1:n.88-1765C>G
XR_949646.1:n.88-1765C>G
XR_949647.1:n.701-1765C>G
XR_949648.1:n.603-1765C>G
NM_000553.5:c.4280G>C NP_000544.2:p.Arg1427Thr
XM_011544639.3:c.4199G>C XP_011542941.1:p.Arg1400Thr
XM_024447265.1:c.4070G>C XP_024303033.1:p.Arg1357Thr
NM_000553.6:c.4280G>C MANE Select NP_000544.2:p.Arg1427Thr