Canonical Allele Identifier: CA345052895

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 1348118
• ClinVar RCV Id: RCV002033279
• dbSNP Id: rs1487879565
• gnomAD v2: 1-227170658-C-T
• gnomAD v4: 1-226982957-C-T
• MyVariant Identifiers: chr1:g.227170658C>T (hg19) ; chr1:g.226982957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982957C>T , CM000663.2:g.226982957C>T	GRCh38
NC_000001.10:g.227170658C>T , CM000663.1:g.227170658C>T	GRCh37
NC_000001.9:g.225237281C>T	NCBI36
NG_012825.1:g.47721C>T
NG_012825.2:g.90422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1003C>T MANE Select	ENSP00000355739.3:p.Pro335Ser
ENST00000366779.6:c.*5730C>T	ENSP00000355741.2:n.*5730C>T
ENST00000676884.1:c.*5852C>T	ENSP00000503200.1:n.*5852C>T
ENST00000366777.3:c.1003C>T	ENSP00000355739.3:p.Pro335Ser
ENST00000366778.5:c.847C>T	ENSP00000355740.1:p.Pro283Ser
ENST00000366779.5:c.1003C>T	ENSP00000355741.1:p.Pro335Ser
ENST00000478406.5:n.982C>T
ENST00000485462.5:n.393C>T
NM_020247.4:c.1003C>T	NP_064632.2:p.Pro335Ser
XM_005273201.1:c.1003C>T	XP_005273258.1:p.Pro335Ser
XM_011544238.1:c.1003C>T	XP_011542540.1:p.Pro335Ser
XM_011544239.1:c.1003C>T	XP_011542541.1:p.Pro335Ser
XM_011544240.1:c.1003C>T	XP_011542542.1:p.Pro335Ser
XM_011544241.1:c.1003C>T	XP_011542543.1:p.Pro335Ser
XM_011544239.2:c.1003C>T	XP_011542541.1:p.Pro335Ser
XM_011544241.2:c.1003C>T	XP_011542543.1:p.Pro335Ser
XM_017001852.1:c.1003C>T	XP_016857341.1:p.Pro335Ser
XM_024448517.1:c.1003C>T	XP_024304285.1:p.Pro335Ser
XM_024448518.1:c.1003C>T	XP_024304286.1:p.Pro335Ser
NM_020247.5:c.1003C>T MANE Select	NP_064632.2:p.Pro335Ser