Canonical Allele Identifier: CA402985251

Gene: NDUFS7

Linked Data

• MyVariant Identifiers: chr19:g.1391027A>G (hg19) ; chr19:g.1391028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391028A>G , CM000681.2:g.1391028A>G	GRCh38
NC_000019.9:g.1391027A>G , CM000681.1:g.1391027A>G	GRCh37
NC_000019.8:g.1342027A>G	NCBI36
NG_008283.1:g.12145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.386A>G MANE Select	ENSP00000233627.9:p.Lys129Arg
ENST00000233627.13:c.386A>G	ENSP00000233627.9:p.Lys129Arg
ENST00000313408.11:c.386A>G	ENSP00000364262.5:p.Lys129Arg
ENST00000414651.3:c.476A>G	ENSP00000406630.2:p.Lys159Arg
ENST00000436115.6:n.2341A>G
ENST00000534853.5:c.*180A>G	ENSP00000442822.1:n.*180A>G
ENST00000535382.1:n.638A>G
ENST00000538523.5:n.442A>G
ENST00000538662.5:n.413A>G
ENST00000538929.5:n.476A>G
ENST00000539480.5:c.386A>G	ENSP00000443273.1:p.Lys129Arg
ENST00000540530.5:n.377A>G
ENST00000543289.5:n.876A>G
ENST00000545446.5:n.677A>G
ENST00000546172.7:c.*382A>G	ENSP00000467094.1:n.*382A>G
ENST00000546283.5:c.386A>G	ENSP00000440348.1:p.Lys129Arg
ENST00000618074.4:c.386A>G	ENSP00000477895.1:p.Lys129Arg
ENST00000620479.4:c.386A>G	ENSP00000480984.1:p.Lys129Arg
ENST00000622587.4:n.382A>G
NM_024407.4:c.386A>G	NP_077718.3:p.Lys129Arg
XM_005259556.3:c.386A>G	XP_005259613.2:p.Lys129Arg
NM_001363602.1:c.386A>G	NP_001350531.1:p.Lys129Arg
XM_024451499.1:c.407A>G	XP_024307267.1:p.Lys136Arg
NM_024407.5:c.386A>G MANE Select	NP_077718.3:p.Lys129Arg
NM_001363602.2:c.386A>G	NP_001350531.1:p.Lys129Arg