Canonical Allele Identifier: CA529464657

Gene: COQ8A

Linked Data

• dbSNP Id: rs1259602255
• gnomAD v2: 1-227171249-ACAG-A
• gnomAD v3: 1-226983548-ACAG-A
• gnomAD v4: 1-226983548-ACAG-A
• MyVariant Identifiers: chr1:g.227171250_227171252del (hg19) ; chr1:g.226983549_226983551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983549_226983551del , CM000663.2:g.226983549_226983551del	GRCh38
NC_000001.10:g.227171250_227171252del , CM000663.1:g.227171250_227171252del	GRCh37
NC_000001.9:g.225237873_225237875del	NCBI36
NG_012825.1:g.48313_48315del
NG_012825.2:g.91014_91016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1081-3_1081-1del MANE Select	ENSP00000355739.3:n.1081-3_1081-1del
ENST00000366779.6:c.*5808-3_*5808-1del	ENSP00000355741.2:n.*5808-3_*5808-1del
ENST00000676884.1:c.*5930-3_*5930-1del	ENSP00000503200.1:n.*5930-3_*5930-1del
ENST00000366777.3:c.1081-3_1081-1del	ENSP00000355739.3:n.1081-3_1081-1del
ENST00000366778.5:c.925-3_925-1del	ENSP00000355740.1:n.925-3_925-1del
ENST00000366779.5:c.1081-3_1081-1del	ENSP00000355741.1:n.1081-3_1081-1del
ENST00000478406.5:n.1574_1576del
ENST00000479852.1:n.29-3_29-1del
ENST00000485462.5:n.471-3_471-1del
NM_020247.4:c.1081-3_1081-1del	NP_064632.2:n.1081-3_1081-1del
XM_005273201.1:c.1081-3_1081-1del	XP_005273258.1:n.1081-3_1081-1del
XM_011544238.1:c.1081-3_1081-1del	XP_011542540.1:n.1081-3_1081-1del
XM_011544239.1:c.1081-3_1081-1del	XP_011542541.1:n.1081-3_1081-1del
XM_011544240.1:c.1081-3_1081-1del	XP_011542542.1:n.1081-3_1081-1del
XM_011544241.1:c.1081-3_1081-1del	XP_011542543.1:n.1081-3_1081-1del
XM_011544239.2:c.1081-3_1081-1del	XP_011542541.1:n.1081-3_1081-1del
XM_011544241.2:c.1081-3_1081-1del	XP_011542543.1:n.1081-3_1081-1del
XM_017001852.1:c.1081-3_1081-1del	XP_016857341.1:n.1081-3_1081-1del
XM_024448517.1:c.1081-3_1081-1del	XP_024304285.1:n.1081-3_1081-1del
XM_024448518.1:c.1081-3_1081-1del	XP_024304286.1:n.1081-3_1081-1del
NM_020247.5:c.1081-3_1081-1del MANE Select	NP_064632.2:n.1081-3_1081-1del