Canonical Allele Identifier: CA9043381

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 2974700
• ClinVar RCV Id: RCV003838322
• dbSNP Id: rs575106720
• ExAC: 19:1391147 C / T
• gnomAD v2: 19-1391147-C-T
• gnomAD v3: 19-1391148-C-T
• gnomAD v4: 19-1391148-C-T
• MyVariant Identifiers: chr19:g.1391147C>T (hg19) ; chr19:g.1391148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391148C>T , CM000681.2:g.1391148C>T	GRCh38
NC_000019.9:g.1391147C>T , CM000681.1:g.1391147C>T	GRCh37
NC_000019.8:g.1342147C>T	NCBI36
NG_008283.1:g.12265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233627.14:c.438C>T MANE Select	ENSP00000233627.9:p.Tyr146=
ENST00000233627.13:c.438C>T	ENSP00000233627.9:p.Tyr146=
ENST00000313408.11:c.438C>T	ENSP00000364262.5:p.Tyr146=
ENST00000414651.3:c.528C>T	ENSP00000406630.2:p.Tyr176=
ENST00000436115.6:n.2393C>T
ENST00000534853.5:c.*232C>T	ENSP00000442822.1:n.*232C>T
ENST00000535382.1:n.690C>T
ENST00000538523.5:n.494C>T
ENST00000538662.5:n.533C>T
ENST00000538929.5:n.528C>T
ENST00000539480.5:c.438C>T	ENSP00000443273.1:p.Tyr146=
ENST00000540530.5:n.429C>T
ENST00000543289.5:n.996C>T
ENST00000545446.5:n.729C>T
ENST00000546172.7:c.*434C>T	ENSP00000467094.1:n.*434C>T
ENST00000546283.5:c.438C>T	ENSP00000440348.1:p.Tyr146=
ENST00000618074.4:c.445C>T	ENSP00000477895.1:p.Arg149Cys
ENST00000620479.4:c.442C>T	ENSP00000480984.1:p.Arg148Cys
ENST00000622587.4:n.502C>T
NM_024407.4:c.438C>T	NP_077718.3:p.Tyr146=
XM_005259556.3:c.438C>T	XP_005259613.2:p.Tyr146=
NM_001363602.1:c.438C>T	NP_001350531.1:p.Tyr146=
XM_024451499.1:c.459C>T	XP_024307267.1:p.Tyr153=
NM_024407.5:c.438C>T MANE Select	NP_077718.3:p.Tyr146=
NM_001363602.2:c.438C>T	NP_001350531.1:p.Tyr146=