Canonical Allele Identifier: CA375017916

Gene: COQ4

Linked Data

• dbSNP Id: rs1480744110
• gnomAD v2: 9-131085447-C-T
• gnomAD v3: 9-128323168-C-T
• gnomAD v4: 9-128323168-C-T
• MyVariant Identifiers: chr9:g.131085447C>T (hg19) ; chr9:g.128323168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128323168C>T , CM000671.2:g.128323168C>T	GRCh38
NC_000009.11:g.131085447C>T , CM000671.1:g.131085447C>T	GRCh37
NC_000009.10:g.130125268C>T	NCBI36
NG_042101.1:g.5661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300452.8:c.202+21C>T MANE Select	ENSP00000300452.3:n.202+21C>T
ENST00000300452.7:c.202+21C>T	ENSP00000300452.3:n.202+21C>T
ENST00000372875.3:c.202+21C>T	ENSP00000361966.3:n.202+21C>T
ENST00000608951.5:c.202+21C>T	ENSP00000476323.1:n.202+21C>T
ENST00000609948.1:c.223C>T	ENSP00000477292.1:p.Pro75Ser
NM_001305942.1:c.202+21C>T	NP_001292871.1:n.202+21C>T
NM_016035.3:c.202+21C>T	NP_057119.2:n.202+21C>T
NM_016035.4:c.202+21C>T	NP_057119.2:n.202+21C>T
XM_011518761.1:c.202+21C>T	XP_011517063.1:n.202+21C>T
XR_929805.1:n.548+21C>T
XM_017014792.1:c.202+21C>T	XP_016870281.1:n.202+21C>T
XM_017014793.1:c.202+21C>T	XP_016870282.1:n.202+21C>T
XR_001746316.2:n.552+21C>T
XR_929805.3:n.548+21C>T
NM_016035.5:c.202+21C>T MANE Select	NP_057119.3:n.202+21C>T
NM_001305942.2:c.202+21C>T	NP_001292871.2:n.202+21C>T