Canonical Allele Identifier: CA402951977
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 486520
dbSNP Id: rs1311925225
gnomAD v2: 19-1223165-G-A
gnomAD v4: 19-1223166-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1223166G>A , CM000681.2:g.1223166G>A GRCh38
NC_000019.9:g.1223165G>A , CM000681.1:g.1223165G>A GRCh37
NC_000019.8:g.1174165G>A NCBI36
NG_007460.2:g.38760G>A , LRG_319:g.38760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.1102G>A ENSP00000490268.2:p.Val368Met
ENST00000585748.3:c.730G>A ENSP00000477641.2:p.Val244Met
ENST00000585851.2:c.928G>A ENSP00000467912.2:p.Val310Met
ENST00000326873.12:c.1102G>A MANE Select ENSP00000324856.6:p.Val368Met
ENST00000652231.1:c.1102G>A ENSP00000498804.1:p.Val368Met
ENST00000326873.11:c.1102G>A ENSP00000324856.6:p.Val368Met
ENST00000585465.2:n.19G>A
ENST00000586243.5:c.1102G>A ENSP00000467240.2:p.Val368Met
ENST00000589152.5:n.1800G>A
NM_000455.4:c.1102G>A , LRG_319t1:c.1102G>A NP_000446.1:p.Val368Met
XM_005259617.1:c.1102G>A XP_005259674.1:p.Val368Met
XM_005259618.3:c.1102G>A XP_005259675.1:p.Val368Met
XM_011528209.1:c.880G>A XP_011526511.1:p.Val294Met
XR_936204.1:n.1878G>A
XM_005259617.3:c.1102G>A XP_005259674.1:p.Val368Met
XM_011528209.2:c.880G>A XP_011526511.1:p.Val294Met
XR_001753738.2:n.1908G>A
XR_001753739.1:n.1908G>A
XR_001753740.2:n.1878G>A
NM_000455.5:c.1102G>A MANE Select NP_000446.1:p.Val368Met