Canonical Allele Identifier: CA6958853
Gene: COG6 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.39751066G>A
GRCh37 chr13:g.40325203G>A
gnomAD v2:
13:40325203 G / A
gnomAD v3:
13:39751066 G / A
gnomAD v4:
chr13-39751066-G-A
Joint Max Group AF 0.00115373 (NFE)
Genomes Max Group AF 0.00074245 (NFE)
Exomes Max Group AF 0.0011685 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39751066G>A , CM000675.2:g.39751066G>A GRCh38
NC_000013.10:g.40325203G>A , CM000675.1:g.40325203G>A GRCh37
NC_000013.9:g.39223203G>A NCBI36
NG_028352.1:g.100440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455146.8:c.1947G>A MANE Select ENSP00000397441.2:p.Pro649=
ENST00000356576.8:c.*1784G>A ENSP00000348983.4:n.*1784G>A
ENST00000416691.5:c.1826+23518G>A ENSP00000403733.1:n.1826+23518G>A
ENST00000455146.7:c.1947G>A ENSP00000397441.2:p.Pro649=
NM_001145079.1:c.1826+23518G>A NP_001138551.1:n.1826+23518G>A
NM_020751.2:c.1947G>A NP_065802.1:p.Pro649=
NR_026745.1:n.2112G>A
XM_011535168.1:c.2082G>A XP_011533470.1:p.Pro694=
XM_011535169.1:c.1926G>A XP_011533471.1:p.Pro642=
XM_011535170.1:c.1926G>A XP_011533472.1:p.Pro642=
NM_020751.3:c.1947G>A MANE Select NP_065802.1:p.Pro649=
NM_001145079.2:c.1826+23518G>A NP_001138551.1:n.1826+23518G>A
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