Canonical Allele Identifier: CA049492
Gene: STK11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1221997G>A
GRCh37 chr19:g.1221996G>A
Revel Score:
ENST00000326873 (MANE Select) 0.567
ENST00000405031 0.567
gnomAD v2:
19:1221996 G / A
gnomAD v3:
19:1221997 G / A
gnomAD v4:
chr19-1221997-G-A
Joint Max Group AF 0.00002579 (AFR)
Genomes Max Group AF 0.00001918 (AFR)
Exomes Max Group AF 0.00001025 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1221997G>A , CM000681.2:g.1221997G>A GRCh38
NC_000019.9:g.1221996G>A , CM000681.1:g.1221996G>A GRCh37
NC_000019.8:g.1172996G>A NCBI36
NG_007460.2:g.37591G>A , LRG_319:g.37591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.911G>A ENSP00000490268.2:p.Arg304Gln
ENST00000585748.3:c.539G>A ENSP00000477641.2:p.Arg180Gln
ENST00000585851.2:c.737G>A ENSP00000467912.2:p.Arg246Gln
ENST00000326873.12:c.911G>A MANE Select ENSP00000324856.6:p.Arg304Gln
ENST00000652231.1:c.911G>A ENSP00000498804.1:p.Arg304Gln
ENST00000326873.11:c.911G>A ENSP00000324856.6:p.Arg304Gln
ENST00000586243.5:c.911G>A ENSP00000467240.2:p.Arg304Gln
ENST00000589152.5:n.1609G>A
ENST00000591133.2:n.882G>A
NM_000455.4:c.911G>A , LRG_319t1:c.911G>A NP_000446.1:p.Arg304Gln
XM_005259617.1:c.911G>A XP_005259674.1:p.Arg304Gln
XM_005259618.3:c.911G>A XP_005259675.1:p.Arg304Gln
XM_011528209.1:c.689G>A XP_011526511.1:p.Arg230Gln
XR_936204.1:n.1687G>A
XM_005259617.3:c.911G>A XP_005259674.1:p.Arg304Gln
XM_011528209.2:c.689G>A XP_011526511.1:p.Arg230Gln
XR_001753738.2:n.1717G>A
XR_001753739.1:n.1717G>A
XR_001753740.2:n.1687G>A
NM_000455.5:c.911G>A MANE Select NP_000446.1:p.Arg304Gln
Search 100 bp 5'
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