Canonical Allele Identifier: CA1012968132

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659841197
• gnomAD v3: 1-226983471-G-C
• gnomAD v4: 1-226983471-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983471G>C , CM000663.2:g.226983471G>C	GRCh38
NC_000001.10:g.227171172G>C , CM000663.1:g.227171172G>C	GRCh37
NC_000001.9:g.225237795G>C	NCBI36
NG_012825.1:g.48235G>C
NG_012825.2:g.90936G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1081-81G>C MANE Select	ENSP00000355739.3:n.1081-81G>C
ENST00000366779.6:c.*5808-81G>C	ENSP00000355741.2:n.*5808-81G>C
ENST00000676884.1:c.*5930-81G>C	ENSP00000503200.1:n.*5930-81G>C
ENST00000366777.3:c.1081-81G>C	ENSP00000355739.3:n.1081-81G>C
ENST00000366778.5:c.925-81G>C	ENSP00000355740.1:n.925-81G>C
ENST00000366779.5:c.1081-81G>C	ENSP00000355741.1:n.1081-81G>C
ENST00000478406.5:n.1496G>C
ENST00000479852.1:n.29-81G>C
ENST00000485462.5:n.471-81G>C
NM_020247.4:c.1081-81G>C	NP_064632.2:n.1081-81G>C
XM_005273201.1:c.1081-81G>C	XP_005273258.1:n.1081-81G>C
XM_011544238.1:c.1081-81G>C	XP_011542540.1:n.1081-81G>C
XM_011544239.1:c.1081-81G>C	XP_011542541.1:n.1081-81G>C
XM_011544240.1:c.1081-81G>C	XP_011542542.1:n.1081-81G>C
XM_011544241.1:c.1081-81G>C	XP_011542543.1:n.1081-81G>C
XM_011544239.2:c.1081-81G>C	XP_011542541.1:n.1081-81G>C
XM_011544241.2:c.1081-81G>C	XP_011542543.1:n.1081-81G>C
XM_017001852.1:c.1081-81G>C	XP_016857341.1:n.1081-81G>C
XM_024448517.1:c.1081-81G>C	XP_024304285.1:n.1081-81G>C
XM_024448518.1:c.1081-81G>C	XP_024304286.1:n.1081-81G>C
NM_020247.5:c.1081-81G>C MANE Select	NP_064632.2:n.1081-81G>C