Canonical Allele Identifier: CA046770
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 516356
dbSNP Id: rs757929417
gnomAD v2: 19-1207220-G-A
gnomAD v3: 19-1207221-G-A
gnomAD v4: 19-1207221-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1207221G>A , CM000681.2:g.1207221G>A GRCh38
NC_000019.9:g.1207220G>A , CM000681.1:g.1207220G>A GRCh37
NC_000019.8:g.1158220G>A NCBI36
NG_007460.2:g.22815G>A , LRG_319:g.22815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.290+18G>A ENSP00000490268.2:n.290+18G>A
ENST00000585748.3:c.-82-11196G>A ENSP00000477641.2:n.-82-11196G>A
ENST00000585851.2:c.290+18G>A ENSP00000467912.2:n.290+18G>A
ENST00000326873.12:c.290+18G>A MANE Select ENSP00000324856.6:n.290+18G>A
ENST00000652231.1:c.290+18G>A ENSP00000498804.1:n.290+18G>A
ENST00000326873.11:c.290+18G>A ENSP00000324856.6:n.290+18G>A
ENST00000585748.2:c.-82-11196G>A ENSP00000477641.1:n.-82-11196G>A
ENST00000585851.1:c.290+18G>A ENSP00000467912.1:n.290+18G>A
ENST00000586243.5:c.290+18G>A ENSP00000467240.2:n.290+18G>A
ENST00000586358.5:n.113+18G>A
ENST00000589152.5:n.380+18G>A
ENST00000593219.5:c.290+18G>A ENSP00000466610.1:n.290+18G>A
NM_000455.4:c.290+18G>A , LRG_319t1:c.290+18G>A NP_000446.1:n.290+18G>A
XM_005259617.1:c.290+18G>A XP_005259674.1:n.290+18G>A
XM_005259618.3:c.290+18G>A XP_005259675.1:n.290+18G>A
XM_011528209.1:c.-64+18G>A XP_011526511.1:n.-64+18G>A
XR_936204.1:n.915+18G>A
XM_005259617.3:c.290+18G>A XP_005259674.1:n.290+18G>A
XM_011528209.2:c.-64+18G>A XP_011526511.1:n.-64+18G>A
XR_001753738.2:n.915+18G>A
XR_001753739.1:n.915+18G>A
XR_001753740.2:n.915+18G>A
NM_000455.5:c.290+18G>A MANE Select NP_000446.1:n.290+18G>A