Canonical Allele Identifier: CA529464644

Gene: COQ8A

Linked Data

• dbSNP Id: rs1256348594
• gnomAD v2: 1-227171171-A-AGTTGGGG
• gnomAD v3: 1-226983470-A-AGTTGGGG
• gnomAD v4: 1-226983470-A-AGTTGGGG
• MyVariant Identifiers: chr1:g.227171171_227171172insGTTGGGG (hg19) ; chr1:g.226983470_226983471insGTTGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983479_226983485dup , CM000663.2:g.226983479_226983485dup	GRCh38
NC_000001.10:g.227171180_227171186dup , CM000663.1:g.227171180_227171186dup	GRCh37
NC_000001.9:g.225237803_225237809dup	NCBI36
NG_012825.1:g.48243_48249dup
NG_012825.2:g.90944_90950dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1081-73_1081-67dup MANE Select	ENSP00000355739.3:n.1081-73_1081-67dup
ENST00000366779.6:c.*5808-73_*5808-67dup	ENSP00000355741.2:n.*5808-73_*5808-67dup
ENST00000676884.1:c.*5930-73_*5930-67dup	ENSP00000503200.1:n.*5930-73_*5930-67dup
ENST00000366777.3:c.1081-73_1081-67dup	ENSP00000355739.3:n.1081-73_1081-67dup
ENST00000366778.5:c.925-73_925-67dup	ENSP00000355740.1:n.925-73_925-67dup
ENST00000366779.5:c.1081-73_1081-67dup	ENSP00000355741.1:n.1081-73_1081-67dup
ENST00000478406.5:n.1504_1510dup
ENST00000479852.1:n.29-73_29-67dup
ENST00000485462.5:n.471-73_471-67dup
NM_020247.4:c.1081-73_1081-67dup	NP_064632.2:n.1081-73_1081-67dup
XM_005273201.1:c.1081-73_1081-67dup	XP_005273258.1:n.1081-73_1081-67dup
XM_011544238.1:c.1081-73_1081-67dup	XP_011542540.1:n.1081-73_1081-67dup
XM_011544239.1:c.1081-73_1081-67dup	XP_011542541.1:n.1081-73_1081-67dup
XM_011544240.1:c.1081-73_1081-67dup	XP_011542542.1:n.1081-73_1081-67dup
XM_011544241.1:c.1081-73_1081-67dup	XP_011542543.1:n.1081-73_1081-67dup
XM_011544239.2:c.1081-73_1081-67dup	XP_011542541.1:n.1081-73_1081-67dup
XM_011544241.2:c.1081-73_1081-67dup	XP_011542543.1:n.1081-73_1081-67dup
XM_017001852.1:c.1081-73_1081-67dup	XP_016857341.1:n.1081-73_1081-67dup
XM_024448517.1:c.1081-73_1081-67dup	XP_024304285.1:n.1081-73_1081-67dup
XM_024448518.1:c.1081-73_1081-67dup	XP_024304286.1:n.1081-73_1081-67dup
NM_020247.5:c.1081-73_1081-67dup MANE Select	NP_064632.2:n.1081-73_1081-67dup