Canonical Allele Identifier: CA278713708

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19067717G>C , CM000678.2:g.19067717G>C	GRCh38
NC_000016.9:g.19079039G>C , CM000678.1:g.19079039G>C	GRCh37
NC_000016.8:g.18986540G>C	NCBI36
NG_046596.1:g.5123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.53G>C MANE Select	ENSP00000322316.5:p.Gly18Ala
ENST00000321998.9:c.53G>C	ENSP00000322316.5:p.Gly18Ala
ENST00000564746.1:n.72G>C
ENST00000566049.5:c.53G>C	ENSP00000456490.1:p.Gly18Ala
ENST00000566110.5:c.-206G>C	ENSP00000456943.1:n.-206G>C
ENST00000568985.5:c.53G>C	ENSP00000456734.1:p.Gly18Ala
ENST00000569312.5:c.53G>C	ENSP00000459076.1:p.Gly18Ala
NM_016138.4:c.53G>C	NP_057222.2:p.Gly18Ala
XR_950722.1:n.123G>C
XR_950722.3:n.123G>C
NM_016138.5:c.53G>C MANE Select	NP_057222.2:p.Gly18Ala
NM_001370490.1:c.53G>C	NP_001357419.1:p.Gly18Ala
NR_163448.1:n.104G>C
NR_163450.1:n.104G>C