Canonical Allele Identifier: CA2579466900

Gene: COQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128322946C>T , CM000671.2:g.128322946C>T	GRCh38
NC_000009.11:g.131085225C>T , CM000671.1:g.131085225C>T	GRCh37
NC_000009.10:g.130125046C>T	NCBI36
NG_042101.1:g.5439C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016035.5:c.70+18C>T MANE Select	NP_057119.3:n.70+18C>T
ENST00000300452.8:c.70+18C>T MANE Select	ENSP00000300452.3:n.70+18C>T
NM_001305942.1:c.70+18C>T	NP_001292871.1:n.70+18C>T
NM_001305942.2:c.70+18C>T	NP_001292871.2:n.70+18C>T
NM_016035.3:c.70+18C>T	NP_057119.2:n.70+18C>T
NM_016035.4:c.70+18C>T	NP_057119.2:n.70+18C>T
ENST00000300452.7:c.70+18C>T	ENSP00000300452.3:n.70+18C>T
ENST00000372875.3:c.70+18C>T	ENSP00000361966.3:n.70+18C>T
ENST00000608951.5:c.70+18C>T	ENSP00000476323.1:n.70+18C>T
ENST00000609948.1:c.70+18C>T	ENSP00000477292.1:n.70+18C>T
XM_011518761.1:c.70+18C>T	XP_011517063.1:n.70+18C>T
XM_017014792.1:c.70+18C>T	XP_016870281.1:n.70+18C>T
XM_017014793.1:c.70+18C>T	XP_016870282.1:n.70+18C>T
XR_001746316.2:n.420+18C>T
XR_929805.1:n.416+18C>T
XR_929805.3:n.416+18C>T