Canonical Allele Identifier: CA048389
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 485018
dbSNP Id: rs370976710
gnomAD v2: 19-1220600-G-C
gnomAD v4: 19-1220601-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1220601G>C , CM000681.2:g.1220601G>C GRCh38
NC_000019.9:g.1220600G>C , CM000681.1:g.1220600G>C GRCh37
NC_000019.8:g.1171600G>C NCBI36
NG_007460.2:g.36195G>C , LRG_319:g.36195G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.618G>C ENSP00000490268.2:p.Ala206=
ENST00000585748.3:c.246G>C ENSP00000477641.2:p.Ala82=
ENST00000585851.2:c.444G>C ENSP00000467912.2:p.Ala148=
ENST00000326873.12:c.618G>C MANE Select ENSP00000324856.6:p.Ala206=
ENST00000652231.1:c.618G>C ENSP00000498804.1:p.Ala206=
ENST00000326873.11:c.618G>C ENSP00000324856.6:p.Ala206=
ENST00000585851.1:c.444G>C ENSP00000467912.1:p.Ala148=
ENST00000586243.5:c.618G>C ENSP00000467240.2:p.Ala206=
ENST00000586358.5:n.516G>C
ENST00000589152.5:n.708G>C
ENST00000591133.2:n.589G>C
NM_000455.4:c.618G>C , LRG_319t1:c.618G>C NP_000446.1:p.Ala206=
XM_005259617.1:c.618G>C XP_005259674.1:p.Ala206=
XM_005259618.3:c.618G>C XP_005259675.1:p.Ala206=
XM_011528209.1:c.396G>C XP_011526511.1:p.Ala132=
XR_936204.1:n.1243G>C
XM_005259617.3:c.618G>C XP_005259674.1:p.Ala206=
XM_011528209.2:c.396G>C XP_011526511.1:p.Ala132=
XR_001753738.2:n.1243G>C
XR_001753739.1:n.1243G>C
XR_001753740.2:n.1243G>C
NM_000455.5:c.618G>C MANE Select NP_000446.1:p.Ala206=