Canonical Allele Identifier: CA047051

Gene: STK11

Linked Data

• ClinVar Variation Id: 237798
• ClinVar RCV Id: RCV000444526 ; RCV000563516 ; RCV001080830 ; RCV000760080 ; RCV003947750
• dbSNP Id: rs780749732
• ExAC: 19:1218437 G / A
• gnomAD v2: 19-1218437-G-A
• gnomAD v3: 19-1218438-G-A
• gnomAD v4: 19-1218438-G-A
• MyVariant Identifiers: chr19:g.1218437G>A (hg19) ; chr19:g.1218438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218438G>A , CM000681.2:g.1218438G>A	GRCh38
NC_000019.9:g.1218437G>A , CM000681.1:g.1218437G>A	GRCh37
NC_000019.8:g.1169437G>A	NCBI36
NG_007460.2:g.34032G>A , LRG_319:g.34032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.312G>A	ENSP00000490268.2:p.Arg104=
ENST00000585748.3:c.-61G>A	ENSP00000477641.2:n.-61G>A
ENST00000585851.2:c.291-1935G>A	ENSP00000467912.2:n.291-1935G>A
ENST00000326873.12:c.312G>A MANE Select	ENSP00000324856.6:p.Arg104=
ENST00000652231.1:c.312G>A	ENSP00000498804.1:p.Arg104=
ENST00000326873.11:c.312G>A	ENSP00000324856.6:p.Arg104=
ENST00000585748.2:c.-61G>A	ENSP00000477641.1:n.-61G>A
ENST00000585851.1:c.291-1935G>A	ENSP00000467912.1:n.291-1935G>A
ENST00000586243.5:c.312G>A	ENSP00000467240.2:p.Arg104=
ENST00000586358.5:n.135G>A
ENST00000589152.5:n.402G>A
ENST00000593219.5:c.*137G>A	ENSP00000466610.1:n.*137G>A
NM_000455.4:c.312G>A , LRG_319t1:c.312G>A	NP_000446.1:p.Arg104=
XM_005259617.1:c.312G>A	XP_005259674.1:p.Arg104=
XM_005259618.3:c.312G>A	XP_005259675.1:p.Arg104=
XM_011528209.1:c.90G>A	XP_011526511.1:p.Arg30=
XR_936204.1:n.937G>A
XM_005259617.3:c.312G>A	XP_005259674.1:p.Arg104=
XM_011528209.2:c.90G>A	XP_011526511.1:p.Arg30=
XR_001753738.2:n.937G>A
XR_001753739.1:n.937G>A
XR_001753740.2:n.937G>A
NM_000455.5:c.312G>A MANE Select	NP_000446.1:p.Arg104=