Canonical Allele Identifier: CA529464675

Gene: COQ8A

Linked Data

• dbSNP Id: rs1299540337
• gnomAD v2: 1-227171561-G-GC
• gnomAD v3: 1-226983860-G-GC
• gnomAD v4: 1-226983860-G-GC
• MyVariant Identifiers: chr1:g.227171561_227171562insC (hg19) ; chr1:g.226983860_226983861insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983865dup , CM000663.2:g.226983865dup	GRCh38
NC_000001.10:g.227171566dup , CM000663.1:g.227171566dup	GRCh37
NC_000001.9:g.225238189dup	NCBI36
NG_012825.1:g.48629dup
NG_012825.2:g.91330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+11dup MANE Select	ENSP00000355739.3:n.1256+11dup
ENST00000366779.6:c.*5983+11dup	ENSP00000355741.2:n.*5983+11dup
ENST00000366777.3:c.1256+11dup	ENSP00000355739.3:n.1256+11dup
ENST00000366778.5:c.1100+11dup	ENSP00000355740.1:n.1100+11dup
ENST00000366779.5:c.1256+11dup	ENSP00000355741.1:n.1256+11dup
ENST00000478406.5:n.1890dup
ENST00000479852.1:n.215dup
ENST00000485462.5:n.646+11dup
NM_020247.4:c.1256+11dup	NP_064632.2:n.1256+11dup
XM_005273201.1:c.1256+11dup	XP_005273258.1:n.1256+11dup
XM_011544238.1:c.1256+11dup	XP_011542540.1:n.1256+11dup
XM_011544239.1:c.1256+11dup	XP_011542541.1:n.1256+11dup
XM_011544240.1:c.1256+11dup	XP_011542542.1:n.1256+11dup
XM_011544241.1:c.1256+11dup	XP_011542543.1:n.1256+11dup
XM_011544239.2:c.1256+11dup	XP_011542541.1:n.1256+11dup
XM_011544241.2:c.1256+11dup	XP_011542543.1:n.1256+11dup
XM_017001852.1:c.1256+11dup	XP_016857341.1:n.1256+11dup
XM_024448517.1:c.1256+11dup	XP_024304285.1:n.1256+11dup
XM_024448518.1:c.1256+11dup	XP_024304286.1:n.1256+11dup
NM_020247.5:c.1256+11dup MANE Select	NP_064632.2:n.1256+11dup