Canonical Allele Identifier: CA1425383

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1981310
• ClinVar RCV Id: RCV002751405
• dbSNP Id: rs778795641
• ExAC: 1:227171564 C / T
• gnomAD v2: 1-227171564-C-T
• gnomAD v3: 1-226983863-C-T
• gnomAD v4: 1-226983863-C-T
• MyVariant Identifiers: chr1:g.227171564C>T (hg19) ; chr1:g.226983863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983863C>T , CM000663.2:g.226983863C>T	GRCh38
NC_000001.10:g.227171564C>T , CM000663.1:g.227171564C>T	GRCh37
NC_000001.9:g.225238187C>T	NCBI36
NG_012825.1:g.48627C>T
NG_012825.2:g.91328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+9C>T MANE Select	ENSP00000355739.3:n.1256+9C>T
ENST00000366779.6:c.*5983+9C>T	ENSP00000355741.2:n.*5983+9C>T
ENST00000366777.3:c.1256+9C>T	ENSP00000355739.3:n.1256+9C>T
ENST00000366778.5:c.1100+9C>T	ENSP00000355740.1:n.1100+9C>T
ENST00000366779.5:c.1256+9C>T	ENSP00000355741.1:n.1256+9C>T
ENST00000478406.5:n.1888C>T
ENST00000479852.1:n.213C>T
ENST00000485462.5:n.646+9C>T
NM_020247.4:c.1256+9C>T	NP_064632.2:n.1256+9C>T
XM_005273201.1:c.1256+9C>T	XP_005273258.1:n.1256+9C>T
XM_011544238.1:c.1256+9C>T	XP_011542540.1:n.1256+9C>T
XM_011544239.1:c.1256+9C>T	XP_011542541.1:n.1256+9C>T
XM_011544240.1:c.1256+9C>T	XP_011542542.1:n.1256+9C>T
XM_011544241.1:c.1256+9C>T	XP_011542543.1:n.1256+9C>T
XM_011544239.2:c.1256+9C>T	XP_011542541.1:n.1256+9C>T
XM_011544241.2:c.1256+9C>T	XP_011542543.1:n.1256+9C>T
XM_017001852.1:c.1256+9C>T	XP_016857341.1:n.1256+9C>T
XM_024448517.1:c.1256+9C>T	XP_024304285.1:n.1256+9C>T
XM_024448518.1:c.1256+9C>T	XP_024304286.1:n.1256+9C>T
NM_020247.5:c.1256+9C>T MANE Select	NP_064632.2:n.1256+9C>T