Canonical Allele Identifier: CA529184438

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1931571
• ClinVar RCV Id: RCV002646046
• dbSNP Id: rs1402637299
• gnomAD v2: 1-227169867-G-GCTGCTGCCCCGGGA
• gnomAD v4: 1-226982166-G-GCTGCTGCCCCGGGA
• MyVariant Identifiers: chr1:g.227169867_227169868insCTGCTGCCCCGGGA (hg19) ; chr1:g.226982166_226982167insCTGCTGCCCCGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982171_226982184dup , CM000663.2:g.226982171_226982184dup	GRCh38
NC_000001.10:g.227169872_227169885dup , CM000663.1:g.227169872_227169885dup	GRCh37
NC_000001.9:g.225236495_225236508dup	NCBI36
NG_012825.1:g.46935_46948dup
NG_012825.2:g.89636_89649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+22_853+35dup MANE Select	ENSP00000355739.3:n.853+22_853+35dup
ENST00000366779.6:c.*5580+22_*5580+35dup	ENSP00000355741.2:n.*5580+22_*5580+35dup
ENST00000676884.1:c.*5702+22_*5702+35dup	ENSP00000503200.1:n.*5702+22_*5702+35dup
ENST00000366777.3:c.853+22_853+35dup	ENSP00000355739.3:n.853+22_853+35dup
ENST00000366778.5:c.697+22_697+35dup	ENSP00000355740.1:n.697+22_697+35dup
ENST00000366779.5:c.853+22_853+35dup	ENSP00000355741.1:n.853+22_853+35dup
ENST00000478406.5:n.326_339dup
ENST00000485462.5:n.243+22_243+35dup
NM_020247.4:c.853+22_853+35dup	NP_064632.2:n.853+22_853+35dup
XM_005273201.1:c.853+22_853+35dup	XP_005273258.1:n.853+22_853+35dup
XM_011544238.1:c.853+22_853+35dup	XP_011542540.1:n.853+22_853+35dup
XM_011544239.1:c.853+22_853+35dup	XP_011542541.1:n.853+22_853+35dup
XM_011544240.1:c.853+22_853+35dup	XP_011542542.1:n.853+22_853+35dup
XM_011544241.1:c.853+22_853+35dup	XP_011542543.1:n.853+22_853+35dup
XM_011544239.2:c.853+22_853+35dup	XP_011542541.1:n.853+22_853+35dup
XM_011544241.2:c.853+22_853+35dup	XP_011542543.1:n.853+22_853+35dup
XM_017001852.1:c.853+22_853+35dup	XP_016857341.1:n.853+22_853+35dup
XM_024448517.1:c.853+22_853+35dup	XP_024304285.1:n.853+22_853+35dup
XM_024448518.1:c.853+22_853+35dup	XP_024304286.1:n.853+22_853+35dup
NM_020247.5:c.853+22_853+35dup MANE Select	NP_064632.2:n.853+22_853+35dup