Canonical Allele Identifier: CA249958

Gene: COG6

Linked Data

• ClinVar Variation Id: 183333
• ClinVar RCV Id: RCV000050228 ; RCV000162165 ; RCV000322754 ; RCV000985030
• dbSNP Id: rs730882236
• gnomAD v4: 13-39699477-A-G
• MyVariant Identifiers: chr13:g.40273614A>G (hg19) ; chr13:g.39699477A>G (hg38)
• PubMed: PMID:23606727 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39699477A>G , CM000675.2:g.39699477A>G	GRCh38
NC_000013.10:g.40273614A>G , CM000675.1:g.40273614A>G	GRCh37
NC_000013.9:g.39171614A>G	NCBI36
NG_028352.1:g.48851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455146.8:c.1167-24A>G MANE Select	ENSP00000397441.2:n.1167-24A>G
ENST00000356576.8:c.*1004-24A>G	ENSP00000348983.4:n.*1004-24A>G
ENST00000416691.5:c.1167-24A>G	ENSP00000403733.1:n.1167-24A>G
ENST00000455146.7:c.1167-24A>G	ENSP00000397441.2:n.1167-24A>G
NM_001145079.1:c.1167-24A>G	NP_001138551.1:n.1167-24A>G
NM_020751.2:c.1167-24A>G	NP_065802.1:n.1167-24A>G
NR_026745.1:n.1332-24A>G
XM_011535168.1:c.1167-24A>G	XP_011533470.1:n.1167-24A>G
XM_011535169.1:c.1011-24A>G	XP_011533471.1:n.1011-24A>G
XM_011535170.1:c.1011-24A>G	XP_011533472.1:n.1011-24A>G
NM_020751.3:c.1167-24A>G MANE Select	NP_065802.1:n.1167-24A>G
NM_001145079.2:c.1167-24A>G	NP_001138551.1:n.1167-24A>G