Canonical Allele Identifier: CA149117

Gene: COG6

Linked Data

• ClinVar Variation Id: 95990
• ClinVar RCV Id: RCV000082044 ; RCV001520762
• dbSNP Id: rs9548882
• ExAC: 13:40263979 T / C
• gnomAD v2: 13-40263979-T-C
• gnomAD v3: 13-39689842-T-C
• gnomAD v4: 13-39689842-T-C
• MyVariant Identifiers: chr13:g.40263979T>C (hg19) ; chr13:g.39689842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39689842T>C , CM000675.2:g.39689842T>C	GRCh38
NC_000013.10:g.40263979T>C , CM000675.1:g.40263979T>C	GRCh37
NC_000013.9:g.39161979T>C	NCBI36
NG_028352.1:g.39216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1074+18T>C MANE Select	ENSP00000397441.2:n.1074+18T>C
ENST00000356576.8:c.*911+18T>C	ENSP00000348983.4:n.*911+18T>C
ENST00000416691.5:c.1074+18T>C	ENSP00000403733.1:n.1074+18T>C
ENST00000455146.7:c.1074+18T>C	ENSP00000397441.2:n.1074+18T>C
NM_001145079.1:c.1074+18T>C	NP_001138551.1:n.1074+18T>C
NM_020751.2:c.1074+18T>C	NP_065802.1:n.1074+18T>C
NR_026745.1:n.1239+18T>C
XM_011535168.1:c.1074+18T>C	XP_011533470.1:n.1074+18T>C
XM_011535169.1:c.918+18T>C	XP_011533471.1:n.918+18T>C
XM_011535170.1:c.918+18T>C	XP_011533472.1:n.918+18T>C
NM_020751.3:c.1074+18T>C MANE Select	NP_065802.1:n.1074+18T>C
NM_001145079.2:c.1074+18T>C	NP_001138551.1:n.1074+18T>C