Canonical Allele Identifier: CA402985326

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1391042T>G (hg19) ; chr19:g.1391043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391043T>G , CM000681.2:g.1391043T>G	GRCh38
NC_000019.9:g.1391042T>G , CM000681.1:g.1391042T>G	GRCh37
NC_000019.8:g.1342042T>G	NCBI36
NG_008283.1:g.12160T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.401T>G MANE Select	ENSP00000233627.9:p.Leu134Arg
ENST00000233627.13:c.401T>G	ENSP00000233627.9:p.Leu134Arg
ENST00000313408.11:c.401T>G	ENSP00000364262.5:p.Leu134Arg
ENST00000414651.3:c.491T>G	ENSP00000406630.2:p.Leu164Arg
ENST00000436115.6:n.2356T>G
ENST00000534853.5:c.*195T>G	ENSP00000442822.1:n.*195T>G
ENST00000535382.1:n.653T>G
ENST00000538523.5:n.457T>G
ENST00000538662.5:n.428T>G
ENST00000538929.5:n.491T>G
ENST00000539480.5:c.401T>G	ENSP00000443273.1:p.Leu134Arg
ENST00000540530.5:n.392T>G
ENST00000543289.5:n.891T>G
ENST00000545446.5:n.692T>G
ENST00000546172.7:c.*397T>G	ENSP00000467094.1:n.*397T>G
ENST00000546283.5:c.401T>G	ENSP00000440348.1:p.Leu134Arg
ENST00000618074.4:c.401T>G	ENSP00000477895.1:p.Leu134Arg
ENST00000620479.4:c.401T>G	ENSP00000480984.1:p.Leu134Arg
ENST00000622587.4:n.397T>G
NM_024407.4:c.401T>G	NP_077718.3:p.Leu134Arg
XM_005259556.3:c.401T>G	XP_005259613.2:p.Leu134Arg
NM_001363602.1:c.401T>G	NP_001350531.1:p.Leu134Arg
XM_024451499.1:c.422T>G	XP_024307267.1:p.Leu141Arg
NM_024407.5:c.401T>G MANE Select	NP_077718.3:p.Leu134Arg
NM_001363602.2:c.401T>G	NP_001350531.1:p.Leu134Arg