Canonical Allele Identifier: CA9043139

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 1522732
• ClinVar RCV Id: RCV002048748 ; RCV002486776
• dbSNP Id: rs762680917
• ExAC: 19:1388889 C / T
• gnomAD v2: 19-1388889-C-T
• gnomAD v3: 19-1388890-C-T
• gnomAD v4: 19-1388890-C-T
• MyVariant Identifiers: chr19:g.1388889C>T (hg19) ; chr19:g.1388890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1388890C>T , CM000681.2:g.1388890C>T	GRCh38
NC_000019.9:g.1388889C>T , CM000681.1:g.1388889C>T	GRCh37
NC_000019.8:g.1339889C>T	NCBI36
NG_008283.1:g.10007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.180C>T MANE Select	ENSP00000233627.9:p.Gly60=
ENST00000233627.13:c.180C>T	ENSP00000233627.9:p.Gly60=
ENST00000313408.11:c.180C>T	ENSP00000364262.5:p.Gly60=
ENST00000414651.3:c.270C>T	ENSP00000406630.2:p.Gly90=
ENST00000436115.6:n.203C>T
ENST00000534853.5:c.175C>T	ENSP00000442822.1:p.Arg59Ter
ENST00000535382.1:n.432C>T
ENST00000538523.5:n.236C>T
ENST00000538662.5:n.207C>T
ENST00000538929.5:n.270C>T
ENST00000539480.5:c.180C>T	ENSP00000443273.1:p.Gly60=
ENST00000540530.5:n.171C>T
ENST00000543289.5:n.670C>T
ENST00000545446.5:n.471C>T
ENST00000546172.7:c.*176C>T	ENSP00000467094.1:n.*176C>T
ENST00000546283.5:c.180C>T	ENSP00000440348.1:p.Gly60=
ENST00000618074.4:c.180C>T	ENSP00000477895.1:p.Gly60=
ENST00000620479.4:c.180C>T	ENSP00000480984.1:p.Gly60=
ENST00000622587.4:n.176C>T
NM_024407.4:c.180C>T	NP_077718.3:p.Gly60=
XM_005259556.3:c.180C>T	XP_005259613.2:p.Gly60=
NM_001363602.1:c.180C>T	NP_001350531.1:p.Gly60=
XM_017026768.2:c.180C>T	XP_016882257.2:p.Gly60=
XM_024451499.1:c.201C>T	XP_024307267.1:p.Gly67=
NM_024407.5:c.180C>T MANE Select	NP_077718.3:p.Gly60=
NM_001363602.2:c.180C>T	NP_001350531.1:p.Gly60=