Canonical Allele Identifier: CA2574145883
Gene: COQ8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984795_226984808dup , CM000663.2:g.226984795_226984808dup GRCh38
NC_000001.10:g.227172496_227172509dup , CM000663.1:g.227172496_227172509dup GRCh37
NC_000001.9:g.225239119_225239132dup NCBI36
NG_012825.1:g.49559_49572dup
NG_012825.2:g.92260_92273dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1507-81_1507-68dup MANE Select ENSP00000355739.3:n.1507-81_1507-68dup
ENST00000366779.6:c.*6234-81_*6234-68dup ENSP00000355741.2:n.*6234-81_*6234-68dup
ENST00000366777.3:c.1507-81_1507-68dup ENSP00000355739.3:n.1507-81_1507-68dup
ENST00000366778.5:c.1351-81_1351-68dup ENSP00000355740.1:n.1351-81_1351-68dup
ENST00000366779.5:c.1507-81_1507-68dup ENSP00000355741.1:n.1507-81_1507-68dup
ENST00000478406.5:n.2369-81_2369-68dup
ENST00000479852.1:n.694-81_694-68dup
ENST00000485462.5:n.897-81_897-68dup
NM_020247.4:c.1507-81_1507-68dup NP_064632.2:n.1507-81_1507-68dup
XM_005273201.1:c.1507-81_1507-68dup XP_005273258.1:n.1507-81_1507-68dup
XM_011544238.1:c.1507-81_1507-68dup XP_011542540.1:n.1507-81_1507-68dup
XM_011544239.1:c.1507-81_1507-68dup XP_011542541.1:n.1507-81_1507-68dup
XM_011544240.1:c.1507-81_1507-68dup XP_011542542.1:n.1507-81_1507-68dup
XM_011544241.1:c.1507-81_1507-68dup XP_011542543.1:n.1507-81_1507-68dup
XM_011544239.2:c.1507-81_1507-68dup XP_011542541.1:n.1507-81_1507-68dup
XM_011544241.2:c.1507-81_1507-68dup XP_011542543.1:n.1507-81_1507-68dup
XM_017001852.1:c.1507-81_1507-68dup XP_016857341.1:n.1507-81_1507-68dup
XM_024448517.1:c.1507-81_1507-68dup XP_024304285.1:n.1507-81_1507-68dup
XM_024448518.1:c.1507-81_1507-68dup XP_024304286.1:n.1507-81_1507-68dup
NM_020247.5:c.1507-81_1507-68dup MANE Select NP_064632.2:n.1507-81_1507-68dup