Canonical Allele Identifier: CA045322

Gene: STK11

Linked Data

• ClinVar Variation Id: 237787
• ClinVar RCV Id: RCV000230024 ; RCV000445130 ; RCV000561129 ; RCV001697298 ; RCV003491999
• dbSNP Id: rs755746417
• ExAC: 19:1223174 G / A
• gnomAD v2: 19-1223174-G-A
• gnomAD v4: 19-1223175-G-A
• MyVariant Identifiers: chr19:g.1223174G>A (hg19) ; chr19:g.1223175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223175G>A , CM000681.2:g.1223175G>A	GRCh38
NC_000019.9:g.1223174G>A , CM000681.1:g.1223174G>A	GRCh37
NC_000019.8:g.1174174G>A	NCBI36
NG_007460.2:g.38769G>A , LRG_319:g.38769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1108+3G>A	ENSP00000490268.2:n.1108+3G>A
ENST00000585748.3:c.736+3G>A	ENSP00000477641.2:n.736+3G>A
ENST00000585851.2:c.934+3G>A	ENSP00000467912.2:n.934+3G>A
ENST00000326873.12:c.1108+3G>A MANE Select	ENSP00000324856.6:n.1108+3G>A
ENST00000652231.1:c.1108+3G>A	ENSP00000498804.1:n.1108+3G>A
ENST00000326873.11:c.1108+3G>A	ENSP00000324856.6:n.1108+3G>A
ENST00000585465.2:n.25+3G>A
ENST00000586243.5:c.1108+3G>A	ENSP00000467240.2:n.1108+3G>A
ENST00000589152.5:n.1806+3G>A
NM_000455.4:c.1108+3G>A , LRG_319t1:c.1108+3G>A	NP_000446.1:n.1108+3G>A
XM_005259617.1:c.1108+3G>A	XP_005259674.1:n.1108+3G>A
XM_005259618.3:c.1108+3G>A	XP_005259675.1:n.1108+3G>A
XM_011528209.1:c.886+3G>A	XP_011526511.1:n.886+3G>A
XR_936204.1:n.1884+3G>A
XM_005259617.3:c.1108+3G>A	XP_005259674.1:n.1108+3G>A
XM_011528209.2:c.886+3G>A	XP_011526511.1:n.886+3G>A
XR_001753738.2:n.1914+3G>A
XR_001753739.1:n.1914+3G>A
XR_001753740.2:n.1884+3G>A
NM_000455.5:c.1108+3G>A MANE Select	NP_000446.1:n.1108+3G>A