Canonical Allele Identifier: CA9043130

Gene: NDUFS7

Linked Data

• dbSNP Id: rs778251548
• ExAC: 19:1388859 A / G
• gnomAD v2: 19-1388859-A-G
• gnomAD v3: 19-1388860-A-G
• gnomAD v4: 19-1388860-A-G
• MyVariant Identifiers: chr19:g.1388859A>G (hg19) ; chr19:g.1388860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388860A>G , CM000681.2:g.1388860A>G	GRCh38
NC_000019.9:g.1388859A>G , CM000681.1:g.1388859A>G	GRCh37
NC_000019.8:g.1339859A>G	NCBI36
NG_008283.1:g.9977A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.150A>G MANE Select	ENSP00000233627.9:p.Arg50=
ENST00000233627.13:c.150A>G	ENSP00000233627.9:p.Arg50=
ENST00000313408.11:c.150A>G	ENSP00000364262.5:p.Arg50=
ENST00000414651.3:c.240A>G	ENSP00000406630.2:p.Arg80=
ENST00000436115.6:n.173A>G
ENST00000534853.5:c.145A>G	ENSP00000442822.1:p.Ser49Gly
ENST00000535382.1:n.402A>G
ENST00000538523.5:n.206A>G
ENST00000538662.5:n.177A>G
ENST00000538929.5:n.240A>G
ENST00000539480.5:c.150A>G	ENSP00000443273.1:p.Arg50=
ENST00000540530.5:n.141A>G
ENST00000543289.5:n.640A>G
ENST00000545446.5:n.441A>G
ENST00000546172.7:c.*146A>G	ENSP00000467094.1:n.*146A>G
ENST00000546283.5:c.150A>G	ENSP00000440348.1:p.Arg50=
ENST00000618074.4:c.150A>G	ENSP00000477895.1:p.Arg50=
ENST00000620479.4:c.150A>G	ENSP00000480984.1:p.Arg50=
ENST00000622587.4:n.146A>G
NM_024407.4:c.150A>G	NP_077718.3:p.Arg50=
XM_005259556.3:c.150A>G	XP_005259613.2:p.Arg50=
NM_001363602.1:c.150A>G	NP_001350531.1:p.Arg50=
XM_017026768.2:c.150A>G	XP_016882257.2:p.Arg50=
XM_024451499.1:c.171A>G	XP_024307267.1:p.Arg57=
NM_024407.5:c.150A>G MANE Select	NP_077718.3:p.Arg50=
NM_001363602.2:c.150A>G	NP_001350531.1:p.Arg50=