Canonical Allele Identifier: CA631299713
Gene: STK11 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.1206815C>T
GRCh37 chr19:g.1206814C>T
gnomAD v2:
19:1206814 C / T
gnomAD v3:
19:1206815 C / T
gnomAD v4:
chr19-1206815-C-T
Joint Max Group AF 0.00851742 (SAS)
Genomes Max Group AF 0.00003811 (NFE)
Exomes Max Group AF 0.00937711 (SAS)
ClinVar RCV:
RCV000990123
ClinVar Variation:
803513
dbSNP:
1407068597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1206815C>T , CM000681.2:g.1206815C>T GRCh38
NC_000019.9:g.1206814C>T , CM000681.1:g.1206814C>T GRCh37
NC_000019.8:g.1157814C>T NCBI36
NG_007460.2:g.22409C>T , LRG_319:g.22409C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000585465.3:c.-99C>T ENSP00000490268.2:n.-99C>T
ENST00000585748.3:c.-82-11602C>T ENSP00000477641.2:n.-82-11602C>T
ENST00000326873.12:c.-99C>T MANE Select ENSP00000324856.6:n.-99C>T
ENST00000652231.1:c.-99C>T ENSP00000498804.1:n.-99C>T
ENST00000326873.11:c.-99C>T ENSP00000324856.6:n.-99C>T
ENST00000585748.2:c.-82-11602C>T ENSP00000477641.1:n.-82-11602C>T
ENST00000586243.5:c.-99C>T ENSP00000467240.2:n.-99C>T
NM_000455.4:c.-99C>T , LRG_319t1:c.-99C>T NP_000446.1:n.-99C>T
XM_005259617.1:c.-99C>T XP_005259674.1:n.-99C>T
XM_005259618.3:c.-99C>T XP_005259675.1:n.-99C>T
XM_011528209.1:c.-452C>T XP_011526511.1:n.-452C>T
XR_936204.1:n.527C>T
XM_005259617.3:c.-99C>T XP_005259674.1:n.-99C>T
XM_011528209.2:c.-452C>T XP_011526511.1:n.-452C>T
XR_001753738.2:n.527C>T
XR_001753739.1:n.527C>T
XR_001753740.2:n.527C>T
NM_000455.5:c.-99C>T MANE Select NP_000446.1:n.-99C>T
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