Canonical Allele Identifier: CA402985372

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1391048A>G (hg19) ; chr19:g.1391049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391049A>G , CM000681.2:g.1391049A>G	GRCh38
NC_000019.9:g.1391048A>G , CM000681.1:g.1391048A>G	GRCh37
NC_000019.8:g.1342048A>G	NCBI36
NG_008283.1:g.12166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.407A>G MANE Select	ENSP00000233627.9:p.Lys136Arg
ENST00000233627.13:c.407A>G	ENSP00000233627.9:p.Lys136Arg
ENST00000313408.11:c.407A>G	ENSP00000364262.5:p.Lys136Arg
ENST00000414651.3:c.497A>G	ENSP00000406630.2:p.Lys166Arg
ENST00000436115.6:n.2362A>G
ENST00000534853.5:c.*201A>G	ENSP00000442822.1:n.*201A>G
ENST00000535382.1:n.659A>G
ENST00000538523.5:n.463A>G
ENST00000538662.5:n.434A>G
ENST00000538929.5:n.497A>G
ENST00000539480.5:c.407A>G	ENSP00000443273.1:p.Lys136Arg
ENST00000540530.5:n.398A>G
ENST00000543289.5:n.897A>G
ENST00000545446.5:n.698A>G
ENST00000546172.7:c.*403A>G	ENSP00000467094.1:n.*403A>G
ENST00000546283.5:c.407A>G	ENSP00000440348.1:p.Lys136Arg
ENST00000618074.4:c.407A>G	ENSP00000477895.1:p.Lys136Arg
ENST00000620479.4:c.407A>G	ENSP00000480984.1:p.Lys136Arg
ENST00000622587.4:n.403A>G
NM_024407.4:c.407A>G	NP_077718.3:p.Lys136Arg
XM_005259556.3:c.407A>G	XP_005259613.2:p.Lys136Arg
NM_001363602.1:c.407A>G	NP_001350531.1:p.Lys136Arg
XM_024451499.1:c.428A>G	XP_024307267.1:p.Lys143Arg
NM_024407.5:c.407A>G MANE Select	NP_077718.3:p.Lys136Arg
NM_001363602.2:c.407A>G	NP_001350531.1:p.Lys136Arg