Canonical Allele Identifier: CA289311

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 136303
• ClinVar RCV Id: RCV000123542 ; RCV000607124 ; RCV000676180 ; RCV003915229
• dbSNP Id: rs17849927
• ExAC: 1:227171484 C / T
• gnomAD v2: 1-227171484-C-T
• gnomAD v3: 1-226983783-C-T
• gnomAD v4: 1-226983783-C-T
• MyVariant Identifiers: chr1:g.227171484C>T (hg19) ; chr1:g.226983783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983783C>T , CM000663.2:g.226983783C>T	GRCh38
NC_000001.10:g.227171484C>T , CM000663.1:g.227171484C>T	GRCh37
NC_000001.9:g.225238107C>T	NCBI36
NG_012825.1:g.48547C>T
NG_012825.2:g.91248C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1185C>T MANE Select	ENSP00000355739.3:p.Ile395=
ENST00000366779.6:c.*5912C>T	ENSP00000355741.2:n.*5912C>T
ENST00000676884.1:c.*6034C>T	ENSP00000503200.1:n.*6034C>T
ENST00000366777.3:c.1185C>T	ENSP00000355739.3:p.Ile395=
ENST00000366778.5:c.1029C>T	ENSP00000355740.1:p.Ile343=
ENST00000366779.5:c.1185C>T	ENSP00000355741.1:p.Ile395=
ENST00000478406.5:n.1808C>T
ENST00000479852.1:n.133C>T
ENST00000485462.5:n.575C>T
NM_020247.4:c.1185C>T	NP_064632.2:p.Ile395=
XM_005273201.1:c.1185C>T	XP_005273258.1:p.Ile395=
XM_011544238.1:c.1185C>T	XP_011542540.1:p.Ile395=
XM_011544239.1:c.1185C>T	XP_011542541.1:p.Ile395=
XM_011544240.1:c.1185C>T	XP_011542542.1:p.Ile395=
XM_011544241.1:c.1185C>T	XP_011542543.1:p.Ile395=
XM_011544239.2:c.1185C>T	XP_011542541.1:p.Ile395=
XM_011544241.2:c.1185C>T	XP_011542543.1:p.Ile395=
XM_017001852.1:c.1185C>T	XP_016857341.1:p.Ile395=
XM_024448517.1:c.1185C>T	XP_024304285.1:p.Ile395=
XM_024448518.1:c.1185C>T	XP_024304286.1:p.Ile395=
NM_020247.5:c.1185C>T MANE Select	NP_064632.2:p.Ile395=