Canonical Allele Identifier: CA402953124
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 941900
dbSNP Id: rs2080821529
gnomAD v3: 19-1226459-G-A
gnomAD v4: 19-1226459-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226459G>A , CM000681.2:g.1226459G>A GRCh38
NC_000019.9:g.1226458G>A , CM000681.1:g.1226458G>A GRCh37
NC_000019.8:g.1177458G>A NCBI36
NG_007460.2:g.42053G>A , LRG_319:g.42053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2715G>A ENSP00000490268.2:n.*2715G>A
ENST00000585748.3:c.742G>A ENSP00000477641.2:p.Val248Ile
ENST00000585851.2:c.940G>A ENSP00000467912.2:p.Val314Ile
ENST00000326873.12:c.1114G>A MANE Select ENSP00000324856.6:p.Val372Ile
ENST00000326873.11:c.1114G>A ENSP00000324856.6:p.Val372Ile
ENST00000585465.2:n.2847G>A
ENST00000586243.5:c.1114G>A ENSP00000467240.2:p.Val372Ile
ENST00000589152.5:n.1812G>A
NM_000455.4:c.1114G>A , LRG_319t1:c.1114G>A NP_000446.1:p.Val372Ile
XM_005259617.1:c.1109G>A XP_005259674.1:p.Gly370Asp
XM_011528209.1:c.887G>A XP_011526511.1:p.Gly296Asp
XM_005259617.3:c.1109G>A XP_005259674.1:p.Gly370Asp
XM_011528209.2:c.887G>A XP_011526511.1:p.Gly296Asp
XR_001753738.2:n.1920G>A
XR_001753740.2:n.1890G>A
NM_000455.5:c.1114G>A MANE Select NP_000446.1:p.Val372Ile