Canonical Allele Identifier: CA402984108

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1388937-G-T
• MyVariant Identifiers: chr19:g.1388936G>T (hg19) ; chr19:g.1388937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388937G>T , CM000681.2:g.1388937G>T	GRCh38
NC_000019.9:g.1388936G>T , CM000681.1:g.1388936G>T	GRCh37
NC_000019.8:g.1339936G>T	NCBI36
NG_008283.1:g.10054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.227G>T MANE Select	ENSP00000233627.9:p.Arg76Leu
ENST00000233627.13:c.227G>T	ENSP00000233627.9:p.Arg76Leu
ENST00000313408.11:c.227G>T	ENSP00000364262.5:p.Arg76Leu
ENST00000414651.3:c.317G>T	ENSP00000406630.2:p.Arg106Leu
ENST00000436115.6:n.250G>T
ENST00000534853.5:c.*21G>T	ENSP00000442822.1:n.*21G>T
ENST00000535382.1:n.479G>T
ENST00000538523.5:n.283G>T
ENST00000538662.5:n.254G>T
ENST00000538929.5:n.317G>T
ENST00000539480.5:c.227G>T	ENSP00000443273.1:p.Arg76Leu
ENST00000540530.5:n.218G>T
ENST00000543289.5:n.717G>T
ENST00000545446.5:n.518G>T
ENST00000546172.7:c.*223G>T	ENSP00000467094.1:n.*223G>T
ENST00000546283.5:c.227G>T	ENSP00000440348.1:p.Arg76Leu
ENST00000618074.4:c.227G>T	ENSP00000477895.1:p.Arg76Leu
ENST00000620479.4:c.227G>T	ENSP00000480984.1:p.Arg76Leu
ENST00000622587.4:n.223G>T
NM_024407.4:c.227G>T	NP_077718.3:p.Arg76Leu
XM_005259556.3:c.227G>T	XP_005259613.2:p.Arg76Leu
NM_001363602.1:c.227G>T	NP_001350531.1:p.Arg76Leu
XM_017026768.2:c.227G>T	XP_016882257.2:p.Arg76Leu
XM_024451499.1:c.248G>T	XP_024307267.1:p.Arg83Leu
NM_024407.5:c.227G>T MANE Select	NP_077718.3:p.Arg76Leu
NM_001363602.2:c.227G>T	NP_001350531.1:p.Arg76Leu