Canonical Allele Identifier: CA732366583

Gene: COQ8A

Linked Data

• dbSNP Id: rs1260134577
• gnomAD v3: 1-226984531-C-CTTCG
• gnomAD v4: 1-226984531-C-CTTCG
• MyVariant Identifiers: chr1:g.227172232_227172233insTTCG (hg19) ; chr1:g.226984531_226984532insTTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984532_226984535dup , CM000663.2:g.226984532_226984535dup	GRCh38
NC_000001.10:g.227172233_227172236dup , CM000663.1:g.227172233_227172236dup	GRCh37
NC_000001.9:g.225238856_225238859dup	NCBI36
NG_012825.1:g.49296_49299dup
NG_012825.2:g.91997_92000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-16_1399-13dup MANE Select	ENSP00000355739.3:n.1399-16_1399-13dup
ENST00000366779.6:c.*6126-16_*6126-13dup	ENSP00000355741.2:n.*6126-16_*6126-13dup
ENST00000366777.3:c.1399-16_1399-13dup	ENSP00000355739.3:n.1399-16_1399-13dup
ENST00000366778.5:c.1243-16_1243-13dup	ENSP00000355740.1:n.1243-16_1243-13dup
ENST00000366779.5:c.1399-16_1399-13dup	ENSP00000355741.1:n.1399-16_1399-13dup
ENST00000478406.5:n.2261-16_2261-13dup
ENST00000479852.1:n.586-16_586-13dup
ENST00000485462.5:n.789-16_789-13dup
NM_020247.4:c.1399-16_1399-13dup	NP_064632.2:n.1399-16_1399-13dup
XM_005273201.1:c.1399-16_1399-13dup	XP_005273258.1:n.1399-16_1399-13dup
XM_011544238.1:c.1399-16_1399-13dup	XP_011542540.1:n.1399-16_1399-13dup
XM_011544239.1:c.1399-16_1399-13dup	XP_011542541.1:n.1399-16_1399-13dup
XM_011544240.1:c.1399-16_1399-13dup	XP_011542542.1:n.1399-16_1399-13dup
XM_011544241.1:c.1399-16_1399-13dup	XP_011542543.1:n.1399-16_1399-13dup
XM_011544239.2:c.1399-16_1399-13dup	XP_011542541.1:n.1399-16_1399-13dup
XM_011544241.2:c.1399-16_1399-13dup	XP_011542543.1:n.1399-16_1399-13dup
XM_017001852.1:c.1399-16_1399-13dup	XP_016857341.1:n.1399-16_1399-13dup
XM_024448517.1:c.1399-16_1399-13dup	XP_024304285.1:n.1399-16_1399-13dup
XM_024448518.1:c.1399-16_1399-13dup	XP_024304286.1:n.1399-16_1399-13dup
NM_020247.5:c.1399-16_1399-13dup MANE Select	NP_064632.2:n.1399-16_1399-13dup