Canonical Allele Identifier: CA394917063
Gene: COQ7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066947
ClinVar RCV Id: RCV002966278

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.19067738G>A , CM000678.2:g.19067738G>A GRCh38
NC_000016.9:g.19079060G>A , CM000678.1:g.19079060G>A GRCh37
NC_000016.8:g.18986561G>A NCBI36
NG_046596.1:g.5144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321998.10:c.73+1G>A MANE Select ENSP00000322316.5:n.73+1G>A
ENST00000321998.9:c.73+1G>A ENSP00000322316.5:n.73+1G>A
ENST00000564746.1:n.92+1G>A
ENST00000566049.5:c.73+1G>A ENSP00000456490.1:n.73+1G>A
ENST00000566110.5:c.-186+1G>A ENSP00000456943.1:n.-186+1G>A
ENST00000568985.5:c.73+1G>A ENSP00000456734.1:n.73+1G>A
ENST00000569312.5:c.73+1G>A ENSP00000459076.1:n.73+1G>A
NM_016138.4:c.73+1G>A NP_057222.2:n.73+1G>A
XR_950722.1:n.143+1G>A
XR_950722.3:n.143+1G>A
NM_016138.5:c.73+1G>A MANE Select NP_057222.2:n.73+1G>A
NM_001370490.1:c.73+1G>A NP_001357419.1:n.73+1G>A
NM_001370494.1:c.-134G>A NP_001357423.1:n.-134G>A
NR_163448.1:n.124+1G>A
NR_163450.1:n.124+1G>A