Canonical Allele Identifier: CA402954320
Gene: STK11 HGNC NCBI

Linked Data

gnomAD v4: 19-1226644-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1226644G>T , CM000681.2:g.1226644G>T GRCh38
NC_000019.9:g.1226643G>T , CM000681.1:g.1226643G>T GRCh37
NC_000019.8:g.1177643G>T NCBI36
NG_007460.2:g.42238G>T , LRG_319:g.42238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.*2900G>T ENSP00000490268.2:n.*2900G>T
ENST00000585748.3:c.927G>T ENSP00000477641.2:p.Gln309His
ENST00000585851.2:c.1125G>T ENSP00000467912.2:p.Gln375His
ENST00000326873.12:c.1299G>T MANE Select ENSP00000324856.6:p.Gln433His
ENST00000326873.11:c.1299G>T ENSP00000324856.6:p.Gln433His
ENST00000585465.2:n.3032G>T
ENST00000586243.5:c.1296G>T ENSP00000467240.2:p.Gln432His
ENST00000589152.5:n.1997G>T
NM_000455.4:c.1299G>T , LRG_319t1:c.1299G>T NP_000446.1:p.Gln433His
XM_005259617.1:c.1294G>T XP_005259674.1:p.Val432Leu
XM_011528209.1:c.1072G>T XP_011526511.1:p.Val358Leu
XM_005259617.3:c.1294G>T XP_005259674.1:p.Val432Leu
XM_011528209.2:c.1072G>T XP_011526511.1:p.Val358Leu
XR_001753738.2:n.2105G>T
XR_001753740.2:n.2075G>T
NM_000455.5:c.1299G>T MANE Select NP_000446.1:p.Gln433His