Canonical Allele Identifier: CA2739266634

Gene: COQ7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19067746A>G , CM000678.2:g.19067746A>G	GRCh38
NC_000016.9:g.19079068A>G , CM000678.1:g.19079068A>G	GRCh37
NC_000016.8:g.18986569A>G	NCBI36
NG_046596.1:g.5152A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016138.5:c.73+9A>G MANE Select	NP_057222.2:n.73+9A>G
ENST00000321998.10:c.73+9A>G MANE Select	ENSP00000322316.5:n.73+9A>G
NM_001370490.1:c.73+9A>G	NP_001357419.1:n.73+9A>G
NM_001370494.1:c.-126A>G	NP_001357423.1:n.-126A>G
NM_016138.4:c.73+9A>G	NP_057222.2:n.73+9A>G
NR_163448.1:n.124+9A>G
NR_163450.1:n.124+9A>G
ENST00000321998.9:c.73+9A>G	ENSP00000322316.5:n.73+9A>G
ENST00000564746.1:n.92+9A>G
ENST00000566049.5:c.73+9A>G	ENSP00000456490.1:n.73+9A>G
ENST00000566110.5:c.-186+9A>G	ENSP00000456943.1:n.-186+9A>G
ENST00000568985.5:c.73+9A>G	ENSP00000456734.1:n.73+9A>G
ENST00000569312.5:c.73+9A>G	ENSP00000459076.1:n.73+9A>G
XR_950722.1:n.143+9A>G
XR_950722.3:n.143+9A>G