Canonical Allele Identifier: CA345052377

Gene: COQ8A

Linked Data

• dbSNP Id: rs1461786365
• gnomAD v2: 1-227170445-T-C
• gnomAD v4: 1-226982744-T-C
• MyVariant Identifiers: chr1:g.227170445T>C (hg19) ; chr1:g.226982744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982744T>C , CM000663.2:g.226982744T>C	GRCh38
NC_000001.10:g.227170445T>C , CM000663.1:g.227170445T>C	GRCh37
NC_000001.9:g.225237068T>C	NCBI36
NG_012825.1:g.47508T>C
NG_012825.2:g.90209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.920T>C MANE Select	ENSP00000355739.3:p.Met307Thr
ENST00000366779.6:c.*5647T>C	ENSP00000355741.2:n.*5647T>C
ENST00000676884.1:c.*5769T>C	ENSP00000503200.1:n.*5769T>C
ENST00000366777.3:c.920T>C	ENSP00000355739.3:p.Met307Thr
ENST00000366778.5:c.764T>C	ENSP00000355740.1:p.Met255Thr
ENST00000366779.5:c.920T>C	ENSP00000355741.1:p.Met307Thr
ENST00000478406.5:n.899T>C
ENST00000485462.5:n.310T>C
NM_020247.4:c.920T>C	NP_064632.2:p.Met307Thr
XM_005273201.1:c.920T>C	XP_005273258.1:p.Met307Thr
XM_011544238.1:c.920T>C	XP_011542540.1:p.Met307Thr
XM_011544239.1:c.920T>C	XP_011542541.1:p.Met307Thr
XM_011544240.1:c.920T>C	XP_011542542.1:p.Met307Thr
XM_011544241.1:c.920T>C	XP_011542543.1:p.Met307Thr
XM_011544239.2:c.920T>C	XP_011542541.1:p.Met307Thr
XM_011544241.2:c.920T>C	XP_011542543.1:p.Met307Thr
XM_017001852.1:c.920T>C	XP_016857341.1:p.Met307Thr
XM_024448517.1:c.920T>C	XP_024304285.1:p.Met307Thr
XM_024448518.1:c.920T>C	XP_024304286.1:p.Met307Thr
NM_020247.5:c.920T>C MANE Select	NP_064632.2:p.Met307Thr