Canonical Allele Identifier: CA046002
Gene: STK11 HGNC NCBI

Linked Data

ClinVar Variation Id: 220585
dbSNP Id: rs748202003
gnomAD v2: 19-1226561-C-T
gnomAD v3: 19-1226562-C-T
gnomAD v4: 19-1226562-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226562C>T , CM000681.2:g.1226562C>T GRCh38
NC_000019.9:g.1226561C>T , CM000681.1:g.1226561C>T GRCh37
NC_000019.8:g.1177561C>T NCBI36
NG_007460.2:g.42156C>T , LRG_319:g.42156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2818C>T ENSP00000490268.2:n.*2818C>T
ENST00000585748.3:c.845C>T ENSP00000477641.2:p.Ala282Val
ENST00000585851.2:c.1043C>T ENSP00000467912.2:p.Ala348Val
ENST00000326873.12:c.1217C>T MANE Select ENSP00000324856.6:p.Ala406Val
ENST00000326873.11:c.1217C>T ENSP00000324856.6:p.Ala406Val
ENST00000585465.2:n.2950C>T
ENST00000586243.5:c.1217C>T ENSP00000467240.2:p.Ala406Val
ENST00000589152.5:n.1915C>T
NM_000455.4:c.1217C>T , LRG_319t1:c.1217C>T NP_000446.1:p.Ala406Val
XM_005259617.1:c.1212C>T XP_005259674.1:p.Gly404=
XM_011528209.1:c.990C>T XP_011526511.1:p.Gly330=
XM_005259617.3:c.1212C>T XP_005259674.1:p.Gly404=
XM_011528209.2:c.990C>T XP_011526511.1:p.Gly330=
XR_001753738.2:n.2023C>T
XR_001753740.2:n.1993C>T
NM_000455.5:c.1217C>T MANE Select NP_000446.1:p.Ala406Val