Canonical Allele Identifier: CA046770

Gene: STK11

Linked Data

• ClinVar Variation Id: 516356
• ClinVar RCV Id: RCV000604623 ; RCV001177929 ; RCV002066682
• dbSNP Id: rs757929417
• ExAC: 19:1207220 G / A
• gnomAD v2: 19-1207220-G-A
• gnomAD v3: 19-1207221-G-A
• gnomAD v4: 19-1207221-G-A
• MyVariant Identifiers: chr19:g.1207220G>A (hg19) ; chr19:g.1207221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1207221G>A , CM000681.2:g.1207221G>A	GRCh38
NC_000019.9:g.1207220G>A , CM000681.1:g.1207220G>A	GRCh37
NC_000019.8:g.1158220G>A	NCBI36
NG_007460.2:g.22815G>A , LRG_319:g.22815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.290+18G>A	ENSP00000490268.2:n.290+18G>A
ENST00000585748.3:c.-82-11196G>A	ENSP00000477641.2:n.-82-11196G>A
ENST00000585851.2:c.290+18G>A	ENSP00000467912.2:n.290+18G>A
ENST00000326873.12:c.290+18G>A MANE Select	ENSP00000324856.6:n.290+18G>A
ENST00000652231.1:c.290+18G>A	ENSP00000498804.1:n.290+18G>A
ENST00000326873.11:c.290+18G>A	ENSP00000324856.6:n.290+18G>A
ENST00000585748.2:c.-82-11196G>A	ENSP00000477641.1:n.-82-11196G>A
ENST00000585851.1:c.290+18G>A	ENSP00000467912.1:n.290+18G>A
ENST00000586243.5:c.290+18G>A	ENSP00000467240.2:n.290+18G>A
ENST00000586358.5:n.113+18G>A
ENST00000589152.5:n.380+18G>A
ENST00000593219.5:c.290+18G>A	ENSP00000466610.1:n.290+18G>A
NM_000455.4:c.290+18G>A , LRG_319t1:c.290+18G>A	NP_000446.1:n.290+18G>A
XM_005259617.1:c.290+18G>A	XP_005259674.1:n.290+18G>A
XM_005259618.3:c.290+18G>A	XP_005259675.1:n.290+18G>A
XM_011528209.1:c.-64+18G>A	XP_011526511.1:n.-64+18G>A
XR_936204.1:n.915+18G>A
XM_005259617.3:c.290+18G>A	XP_005259674.1:n.290+18G>A
XM_011528209.2:c.-64+18G>A	XP_011526511.1:n.-64+18G>A
XR_001753738.2:n.915+18G>A
XR_001753739.1:n.915+18G>A
XR_001753740.2:n.915+18G>A
NM_000455.5:c.290+18G>A MANE Select	NP_000446.1:n.290+18G>A