Canonical Allele Identifier: CA394916960
Gene: COQ7 HGNC NCBI
COQ7-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.19067672G>T , CM000678.2:g.19067672G>T GRCh38
NC_000016.9:g.19078994G>T , CM000678.1:g.19078994G>T GRCh37
NC_000016.8:g.18986495G>T NCBI36
NG_046596.1:g.5078G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321998.10:c.8G>T (COQ7) MANE Select ENSP00000322316.5:p.Cys3Phe
ENST00000321998.9:c.8G>T (COQ7) ENSP00000322316.5:p.Cys3Phe
ENST00000564746.1:n.27G>T (COQ7)
ENST00000566049.5:c.8G>T (COQ7) ENSP00000456490.1:p.Cys3Phe
ENST00000566110.5:c.-251G>T (COQ7) ENSP00000456943.1:n.-251G>T
ENST00000568985.5:c.8G>T (COQ7) ENSP00000456734.1:p.Cys3Phe
ENST00000569312.5:c.8G>T (COQ7) ENSP00000459076.1:p.Cys3Phe
NM_016138.4:c.8G>T (COQ7) NP_057222.2:p.Cys3Phe
NR_119379.1:n.20C>A (COQ7-DT)
NR_119380.1:n.20C>A (COQ7-DT)
NR_119381.1:n.20C>A (COQ7-DT)
XR_950722.1:n.78G>T (COQ7)
XR_950722.3:n.78G>T (COQ7)
NM_016138.5:c.8G>T (COQ7) MANE Select NP_057222.2:p.Cys3Phe
NM_001370490.1:c.8G>T (COQ7) NP_001357419.1:p.Cys3Phe
NR_163448.1:n.59G>T (COQ7)
NR_163450.1:n.59G>T (COQ7)