Canonical Allele Identifier: CA38646379

Gene: COQ8A

Linked Data

• dbSNP Id: rs199921339
• gnomAD v3: 1-226983791-T-C
• gnomAD v4: 1-226983791-T-C
• MyVariant Identifiers: chr1:g.227171492T>C (hg19) ; chr1:g.226983791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983791T>C , CM000663.2:g.226983791T>C	GRCh38
NC_000001.10:g.227171492T>C , CM000663.1:g.227171492T>C	GRCh37
NC_000001.9:g.225238115T>C	NCBI36
NG_012825.1:g.48555T>C
NG_012825.2:g.91256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1193T>C MANE Select	ENSP00000355739.3:p.Leu398Pro
ENST00000366779.6:c.*5920T>C	ENSP00000355741.2:n.*5920T>C
ENST00000676884.1:c.*6042T>C	ENSP00000503200.1:n.*6042T>C
ENST00000366777.3:c.1193T>C	ENSP00000355739.3:p.Leu398Pro
ENST00000366778.5:c.1037T>C	ENSP00000355740.1:p.Leu346Pro
ENST00000366779.5:c.1193T>C	ENSP00000355741.1:p.Leu398Pro
ENST00000478406.5:n.1816T>C
ENST00000479852.1:n.141T>C
ENST00000485462.5:n.583T>C
NM_020247.4:c.1193T>C	NP_064632.2:p.Leu398Pro
XM_005273201.1:c.1193T>C	XP_005273258.1:p.Leu398Pro
XM_011544238.1:c.1193T>C	XP_011542540.1:p.Leu398Pro
XM_011544239.1:c.1193T>C	XP_011542541.1:p.Leu398Pro
XM_011544240.1:c.1193T>C	XP_011542542.1:p.Leu398Pro
XM_011544241.1:c.1193T>C	XP_011542543.1:p.Leu398Pro
XM_011544239.2:c.1193T>C	XP_011542541.1:p.Leu398Pro
XM_011544241.2:c.1193T>C	XP_011542543.1:p.Leu398Pro
XM_017001852.1:c.1193T>C	XP_016857341.1:p.Leu398Pro
XM_024448517.1:c.1193T>C	XP_024304285.1:p.Leu398Pro
XM_024448518.1:c.1193T>C	XP_024304286.1:p.Leu398Pro
NM_020247.5:c.1193T>C MANE Select	NP_064632.2:p.Leu398Pro