Canonical Allele Identifier: CA6958553
Gene: COG6 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.39694622A>C
GRCh37 chr13:g.40268759A>C
gnomAD v2:
13:40268759 A / C
gnomAD v3:
13:39694622 A / C
gnomAD v4:
chr13-39694622-A-C
Joint Max Group AF 0.00020274 (NFE)
Genomes Max Group AF 0.00019506 (NFE)
Exomes Max Group AF 0.00019765 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39694622A>C , CM000675.2:g.39694622A>C GRCh38
NC_000013.10:g.40268759A>C , CM000675.1:g.40268759A>C GRCh37
NC_000013.9:g.39166759A>C NCBI36
NG_028352.1:g.43996A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000455146.8:c.1075-12A>C MANE Select ENSP00000397441.2:n.1075-12A>C
ENST00000356576.8:c.*912-12A>C ENSP00000348983.4:n.*912-12A>C
ENST00000416691.5:c.1075-12A>C ENSP00000403733.1:n.1075-12A>C
ENST00000455146.7:c.1075-12A>C ENSP00000397441.2:n.1075-12A>C
NM_001145079.1:c.1075-12A>C NP_001138551.1:n.1075-12A>C
NM_020751.2:c.1075-12A>C NP_065802.1:n.1075-12A>C
NR_026745.1:n.1240-12A>C
XM_011535168.1:c.1075-12A>C XP_011533470.1:n.1075-12A>C
XM_011535169.1:c.919-12A>C XP_011533471.1:n.919-12A>C
XM_011535170.1:c.919-12A>C XP_011533472.1:n.919-12A>C
NM_020751.3:c.1075-12A>C MANE Select NP_065802.1:n.1075-12A>C
NM_001145079.2:c.1075-12A>C NP_001138551.1:n.1075-12A>C
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