Canonical Allele Identifier: CA10642275
Gene: STK11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1206453G>A
GRCh37 chr19:g.1206452G>A
gnomAD v3:
19:1206453 G / A
gnomAD v4:
chr19-1206453-G-A
Joint Max Group AF 0.00063739 (AMR)
Genomes Max Group AF 0.00060371 (AMR)
Exomes Max Group AF 0.00027906 (AMR)
ClinVar Allele:
332567
ClinVar RCV:
RCV000272449
ClinVar Variation:
328213
dbSNP:
552610464
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1206453G>A , CM000681.2:g.1206453G>A GRCh38
NC_000019.9:g.1206452G>A , CM000681.1:g.1206452G>A GRCh37
NC_000019.8:g.1157452G>A NCBI36
NG_007460.2:g.22047G>A , LRG_319:g.22047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.-461G>A ENSP00000490268.2:n.-461G>A
ENST00000585748.3:c.-82-11964G>A ENSP00000477641.2:n.-82-11964G>A
ENST00000326873.12:c.-461G>A MANE Select ENSP00000324856.6:n.-461G>A
ENST00000652231.1:c.-461G>A ENSP00000498804.1:n.-461G>A
ENST00000585748.2:c.-82-11964G>A ENSP00000477641.1:n.-82-11964G>A
ENST00000586243.5:c.-461G>A ENSP00000467240.2:n.-461G>A
NM_000455.4:c.-461G>A , LRG_319t1:c.-461G>A NP_000446.1:n.-461G>A
XM_005259617.1:c.-461G>A XP_005259674.1:n.-461G>A
XM_005259618.3:c.-461G>A XP_005259675.1:n.-461G>A
XM_011528209.1:c.-814G>A XP_011526511.1:n.-814G>A
XR_936204.1:n.165G>A
XM_005259617.3:c.-461G>A XP_005259674.1:n.-461G>A
XM_011528209.2:c.-814G>A XP_011526511.1:n.-814G>A
XR_001753738.2:n.165G>A
XR_001753739.1:n.165G>A
XR_001753740.2:n.165G>A
NM_000455.5:c.-461G>A MANE Select NP_000446.1:n.-461G>A
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