Canonical Allele Identifier: CA049602

Gene: STK11

Linked Data

• ClinVar Variation Id: 215742
• ClinVar RCV Id: RCV000198532 ; RCV000421028 ; RCV000580582 ; RCV000589890
• dbSNP Id: rs2075607
• ExAC: 19:1222012 G / A
• gnomAD v2: 19-1222012-G-A
• gnomAD v3: 19-1222013-G-A
• gnomAD v4: 19-1222013-G-A
• MyVariant Identifiers: chr19:g.1222012G>A (hg19) ; chr19:g.1222013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1222013G>A , CM000681.2:g.1222013G>A	GRCh38
NC_000019.9:g.1222012G>A , CM000681.1:g.1222012G>A	GRCh37
NC_000019.8:g.1173012G>A	NCBI36
NG_007460.2:g.37607G>A , LRG_319:g.37607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.920+7G>A	ENSP00000490268.2:n.920+7G>A
ENST00000585748.3:c.548+7G>A	ENSP00000477641.2:n.548+7G>A
ENST00000585851.2:c.746+7G>A	ENSP00000467912.2:n.746+7G>A
ENST00000326873.12:c.920+7G>A MANE Select	ENSP00000324856.6:n.920+7G>A
ENST00000652231.1:c.920+7G>A	ENSP00000498804.1:n.920+7G>A
ENST00000326873.11:c.920+7G>A	ENSP00000324856.6:n.920+7G>A
ENST00000586243.5:c.920+7G>A	ENSP00000467240.2:n.920+7G>A
ENST00000589152.5:n.1618+7G>A
ENST00000591133.2:n.891+7G>A
NM_000455.4:c.920+7G>A , LRG_319t1:c.920+7G>A	NP_000446.1:n.920+7G>A
XM_005259617.1:c.920+7G>A	XP_005259674.1:n.920+7G>A
XM_005259618.3:c.920+7G>A	XP_005259675.1:n.920+7G>A
XM_011528209.1:c.698+7G>A	XP_011526511.1:n.698+7G>A
XR_936204.1:n.1696+7G>A
XM_005259617.3:c.920+7G>A	XP_005259674.1:n.920+7G>A
XM_011528209.2:c.698+7G>A	XP_011526511.1:n.698+7G>A
XR_001753738.2:n.1726+7G>A
XR_001753739.1:n.1726+7G>A
XR_001753740.2:n.1696+7G>A
NM_000455.5:c.920+7G>A MANE Select	NP_000446.1:n.920+7G>A