Canonical Allele Identifier: CA4705314
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1494873
ClinVar RCV Id: RCV001989634
dbSNP Id: rs61751045
gnomAD v2: 8-31030599-G-A
gnomAD v4: 8-31173083-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.4280G>A MANE Select ENSP00000298139.5:p.Arg1427Lys
ENST00000650667.1:c.*3894G>A ENSP00000498593.1:n.*3894G>A
ENST00000651946.1:n.504G>A
ENST00000298139.5:c.4280G>A ENSP00000298139.5:p.Arg1427Lys
ENST00000521620.5:n.2913G>A
NM_000553.4:c.4280G>A , LRG_524t1:c.4280G>A NP_000544.2:p.Arg1427Lys
XM_011544639.1:c.4199G>A XP_011542941.1:p.Arg1400Lys
XM_011544640.1:c.2681G>A XP_011542942.1:p.Arg894Lys
XR_949643.1:n.88-1765C>T
XR_949644.1:n.88-1765C>T
XR_949645.1:n.88-1765C>T
XR_949646.1:n.88-1765C>T
XR_949647.1:n.701-1765C>T
XR_949648.1:n.603-1765C>T
NM_000553.5:c.4280G>A NP_000544.2:p.Arg1427Lys
XM_011544639.3:c.4199G>A XP_011542941.1:p.Arg1400Lys
XM_024447265.1:c.4070G>A XP_024303033.1:p.Arg1357Lys
NM_000553.6:c.4280G>A MANE Select NP_000544.2:p.Arg1427Lys