Canonical Allele Identifier: CA6958505

Gene: COG6

Linked Data

• ClinVar Variation Id: 312139
• ClinVar RCV Id: RCV000363166 ; RCV000434077 ; RCV001517511
• dbSNP Id: rs4129745
• ExAC: 13:40261945 A / G
• gnomAD v2: 13-40261945-A-G
• gnomAD v3: 13-39687808-A-G
• gnomAD v4: 13-39687808-A-G
• MyVariant Identifiers: chr13:g.40261945A>G (hg19) ; chr13:g.39687808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39687808A>G , CM000675.2:g.39687808A>G	GRCh38
NC_000013.10:g.40261945A>G , CM000675.1:g.40261945A>G	GRCh37
NC_000013.9:g.39159945A>G	NCBI36
NG_028352.1:g.37182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1009+9A>G MANE Select	ENSP00000397441.2:n.1009+9A>G
ENST00000356576.8:c.*846+9A>G	ENSP00000348983.4:n.*846+9A>G
ENST00000416691.5:c.1009+9A>G	ENSP00000403733.1:n.1009+9A>G
ENST00000455146.7:c.1009+9A>G	ENSP00000397441.2:n.1009+9A>G
ENST00000460701.1:n.257+9A>G
NM_001145079.1:c.1009+9A>G	NP_001138551.1:n.1009+9A>G
NM_020751.2:c.1009+9A>G	NP_065802.1:n.1009+9A>G
NR_026745.1:n.1174+9A>G
XM_011535168.1:c.1009+9A>G	XP_011533470.1:n.1009+9A>G
XM_011535169.1:c.853+9A>G	XP_011533471.1:n.853+9A>G
XM_011535170.1:c.853+9A>G	XP_011533472.1:n.853+9A>G
NM_020751.3:c.1009+9A>G MANE Select	NP_065802.1:n.1009+9A>G
NM_001145079.2:c.1009+9A>G	NP_001138551.1:n.1009+9A>G