Canonical Allele Identifier: CA240949
Gene: COG6 HGNC NCBI
gnomAD v2:
13:40298633 T / C
gnomAD v3:
13:39724496 T / C
gnomAD v4:
chr13-39724496-T-C
Joint Max Group AF 0.00258165 (AFR)
Genomes Max Group AF 0.00277241 (AFR)
Exomes Max Group AF 0.00208906 (AFR)
ClinVar RCV:
RCV000175223
RCV002056932
ClinVar Variation:
194778
dbSNP:
561776134
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39724496T>C , CM000675.2:g.39724496T>C GRCh38
NC_000013.10:g.40298633T>C , CM000675.1:g.40298633T>C GRCh37
NC_000013.9:g.39196633T>C NCBI36
NG_028352.1:g.73870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455146.8:c.1693-12T>C MANE Select ENSP00000397441.2:n.1693-12T>C
ENST00000356576.8:c.*1530-12T>C ENSP00000348983.4:n.*1530-12T>C
ENST00000416691.5:c.1693-12T>C ENSP00000403733.1:n.1693-12T>C
ENST00000455146.7:c.1693-12T>C ENSP00000397441.2:n.1693-12T>C
NM_001145079.1:c.1693-12T>C NP_001138551.1:n.1693-12T>C
NM_020751.2:c.1693-12T>C NP_065802.1:n.1693-12T>C
NR_026745.1:n.1858-12T>C
XM_011535168.1:c.1693-12T>C XP_011533470.1:n.1693-12T>C
XM_011535169.1:c.1537-12T>C XP_011533471.1:n.1537-12T>C
XM_011535170.1:c.1537-12T>C XP_011533472.1:n.1537-12T>C
NM_020751.3:c.1693-12T>C MANE Select NP_065802.1:n.1693-12T>C
NM_001145079.2:c.1693-12T>C NP_001138551.1:n.1693-12T>C
Search 100 bp 5'
Search 100 bp 3'