Canonical Allele Identifier: CA2525555274

Gene: COQ7

Linked Data

• ClinVar Variation Id: 2847479
• ClinVar RCV Id: RCV003690805
• gnomAD v4: 16-19067744-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19067744G>A , CM000678.2:g.19067744G>A	GRCh38
NC_000016.9:g.19079066G>A , CM000678.1:g.19079066G>A	GRCh37
NC_000016.8:g.18986567G>A	NCBI36
NG_046596.1:g.5150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321998.10:c.73+7G>A MANE Select	ENSP00000322316.5:n.73+7G>A
ENST00000321998.9:c.73+7G>A	ENSP00000322316.5:n.73+7G>A
ENST00000564746.1:n.92+7G>A
ENST00000566049.5:c.73+7G>A	ENSP00000456490.1:n.73+7G>A
ENST00000566110.5:c.-186+7G>A	ENSP00000456943.1:n.-186+7G>A
ENST00000568985.5:c.73+7G>A	ENSP00000456734.1:n.73+7G>A
ENST00000569312.5:c.73+7G>A	ENSP00000459076.1:n.73+7G>A
NM_016138.4:c.73+7G>A	NP_057222.2:n.73+7G>A
XR_950722.1:n.143+7G>A
XR_950722.3:n.143+7G>A
NM_016138.5:c.73+7G>A MANE Select	NP_057222.2:n.73+7G>A
NM_001370490.1:c.73+7G>A	NP_001357419.1:n.73+7G>A
NM_001370494.1:c.-128G>A	NP_001357423.1:n.-128G>A
NR_163448.1:n.124+7G>A
NR_163450.1:n.124+7G>A