Canonical Allele Identifier: CA046464
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 647785
dbSNP Id: rs775346785
gnomAD v2: 19-1206929-C-G
gnomAD v4: 19-1206930-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1206930C>G , CM000681.2:g.1206930C>G GRCh38
NC_000019.9:g.1206929C>G , CM000681.1:g.1206929C>G GRCh37
NC_000019.8:g.1157929C>G NCBI36
NG_007460.2:g.22524C>G , LRG_319:g.22524C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.17C>G ENSP00000490268.2:p.Pro6Arg
ENST00000585748.3:c.-82-11487C>G ENSP00000477641.2:n.-82-11487C>G
ENST00000585851.2:c.17C>G ENSP00000467912.2:p.Pro6Arg
ENST00000326873.12:c.17C>G MANE Select ENSP00000324856.6:p.Pro6Arg
ENST00000652231.1:c.17C>G ENSP00000498804.1:p.Pro6Arg
ENST00000326873.11:c.17C>G ENSP00000324856.6:p.Pro6Arg
ENST00000585748.2:c.-82-11487C>G ENSP00000477641.1:n.-82-11487C>G
ENST00000585851.1:c.17C>G ENSP00000467912.1:p.Pro6Arg
ENST00000586243.5:c.17C>G ENSP00000467240.2:p.Pro6Arg
ENST00000589152.5:n.107C>G
ENST00000593219.5:c.17C>G ENSP00000466610.1:p.Pro6Arg
NM_000455.4:c.17C>G , LRG_319t1:c.17C>G NP_000446.1:p.Pro6Arg
XM_005259617.1:c.17C>G XP_005259674.1:p.Pro6Arg
XM_005259618.3:c.17C>G XP_005259675.1:p.Pro6Arg
XM_011528209.1:c.-337C>G XP_011526511.1:n.-337C>G
XR_936204.1:n.642C>G
XM_005259617.3:c.17C>G XP_005259674.1:p.Pro6Arg
XM_011528209.2:c.-337C>G XP_011526511.1:n.-337C>G
XR_001753738.2:n.642C>G
XR_001753739.1:n.642C>G
XR_001753740.2:n.642C>G
NM_000455.5:c.17C>G MANE Select NP_000446.1:p.Pro6Arg