Canonical Allele Identifier: CA16044182
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 375333
dbSNP Id: rs1057519344

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226983551_226983553dup , CM000663.2:g.226983551_226983553dup GRCh38
NC_000001.10:g.227171252_227171254dup , CM000663.1:g.227171252_227171254dup GRCh37
NC_000001.9:g.225237875_225237877dup NCBI36
NG_012825.1:g.48315_48317dup
NG_012825.2:g.91016_91018dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.4:c.1081-1_1082dup
ENST00000366779.6:c.*5808-1_*5809dup
ENST00000676884.1:c.*5930-1_*5931dup
ENST00000366777.3:c.1081-1_1082dup
ENST00000366778.5:c.925-1_926dup
ENST00000366779.5:c.1081-1_1082dup
ENST00000478406.5:n.1576_1578dup
ENST00000479852.1:n.29-1_30dup
ENST00000485462.5:n.471-1_472dup
NM_020247.4:c.1081-1_1082dup
XM_005273201.1:c.1081-1_1082dup
XM_011544238.1:c.1081-1_1082dup
XM_011544239.1:c.1081-1_1082dup
XM_011544240.1:c.1081-1_1082dup
XM_011544241.1:c.1081-1_1082dup
XM_011544239.2:c.1081-1_1082dup
XM_011544241.2:c.1081-1_1082dup
XM_017001852.1:c.1081-1_1082dup
XM_024448517.1:c.1081-1_1082dup
XM_024448518.1:c.1081-1_1082dup
NM_020247.5:c.1081-1_1082dup