Canonical Allele Identifier: CA6958114

Gene: COG6

Linked Data

• ClinVar Variation Id: 510485
• ClinVar RCV Id: RCV000615973
• dbSNP Id: rs188328396
• ExAC: 13:40229823 G / C
• gnomAD v2: 13-40229823-G-C
• gnomAD v3: 13-39655686-G-C
• gnomAD v4: 13-39655686-G-C
• MyVariant Identifiers: chr13:g.40229823G>C (hg19) ; chr13:g.39655686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39655686G>C , CM000675.2:g.39655686G>C	GRCh38
NC_000013.10:g.40229823G>C , CM000675.1:g.40229823G>C	GRCh37
NC_000013.9:g.39127823G>C	NCBI36
NG_028352.1:g.5060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.-41G>C MANE Select	ENSP00000397441.2:n.-41G>C
ENST00000416691.5:c.-41G>C	ENSP00000403733.1:n.-41G>C
ENST00000422759.6:n.25G>C
ENST00000455146.7:c.-41G>C	ENSP00000397441.2:n.-41G>C
ENST00000542266.5:c.-41G>C	ENSP00000441297.1:n.-41G>C
ENST00000543790.5:c.-41G>C	ENSP00000440438.1:n.-41G>C
ENST00000543804.5:c.-41G>C	ENSP00000440473.1:n.-41G>C
NM_001145079.1:c.-41G>C	NP_001138551.1:n.-41G>C
NM_020751.2:c.-41G>C	NP_065802.1:n.-41G>C
NR_026745.1:n.60G>C
XM_011535168.1:c.-41G>C	XP_011533470.1:n.-41G>C
NM_020751.3:c.-41G>C MANE Select	NP_065802.1:n.-41G>C
NM_001145079.2:c.-41G>C	NP_001138551.1:n.-41G>C