Canonical Allele Identifier: CA402954004
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 633438
dbSNP Id: rs1459406168
gnomAD v3: 19-1226593-G-C
gnomAD v4: 19-1226593-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226593G>C , CM000681.2:g.1226593G>C GRCh38
NC_000019.9:g.1226592G>C , CM000681.1:g.1226592G>C GRCh37
NC_000019.8:g.1177592G>C NCBI36
NG_007460.2:g.42187G>C , LRG_319:g.42187G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2849G>C ENSP00000490268.2:n.*2849G>C
ENST00000585748.3:c.876G>C ENSP00000477641.2:p.Lys292Asn
ENST00000585851.2:c.1074G>C ENSP00000467912.2:p.Lys358Asn
ENST00000326873.12:c.1248G>C MANE Select ENSP00000324856.6:p.Lys416Asn
ENST00000326873.11:c.1248G>C ENSP00000324856.6:p.Lys416Asn
ENST00000585465.2:n.2981G>C
ENST00000586243.5:c.1247G>C ENSP00000467240.2:p.Arg416Thr
ENST00000589152.5:n.1946G>C
NM_000455.4:c.1248G>C , LRG_319t1:c.1248G>C NP_000446.1:p.Lys416Asn
XM_005259617.1:c.1243G>C XP_005259674.1:p.Gly415Arg
XM_011528209.1:c.1021G>C XP_011526511.1:p.Gly341Arg
XM_005259617.3:c.1243G>C XP_005259674.1:p.Gly415Arg
XM_011528209.2:c.1021G>C XP_011526511.1:p.Gly341Arg
XR_001753738.2:n.2054G>C
XR_001753740.2:n.2024G>C
NM_000455.5:c.1248G>C MANE Select NP_000446.1:p.Lys416Asn