Canonical Allele Identifier: CA9043334

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 2957829
• ClinVar RCV Id: RCV003811492
• dbSNP Id: rs777504868
• ExAC: 19:1390970 TCCGCGCCAGC / T
• gnomAD v2: 19-1390970-TCCGCGCCAGC-T
• gnomAD v3: 19-1390971-TCCGCGCCAGC-T
• gnomAD v4: 19-1390971-TCCGCGCCAGC-T
• MyVariant Identifiers: chr19:g.1390971_1390980del (hg19) ; chr19:g.1390972_1390981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390981_1390990del , CM000681.2:g.1390981_1390990del	GRCh38
NC_000019.9:g.1390980_1390989del , CM000681.1:g.1390980_1390989del	GRCh37
NC_000019.8:g.1341980_1341989del	NCBI36
NG_008283.1:g.12098_12107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.339_348del MANE Select	ENSP00000233627.9:p.Arg115ThrfsTer3
ENST00000233627.13:c.339_348del	ENSP00000233627.9:p.Arg115ThrfsTer3
ENST00000313408.11:c.339_348del	ENSP00000364262.5:p.Arg115ThrfsTer3
ENST00000414651.3:c.429_438del	ENSP00000406630.2:p.Arg145ThrfsTer3
ENST00000436115.6:n.2294_2303del
ENST00000534853.5:c.*133_*142del	ENSP00000442822.1:n.*133_*142del
ENST00000535382.1:n.591_600del
ENST00000538523.5:n.395_404del
ENST00000538662.5:n.366_375del
ENST00000538929.5:n.429_438del
ENST00000539480.5:c.339_348del	ENSP00000443273.1:p.Arg115ThrfsTer3
ENST00000540530.5:n.330_339del
ENST00000543289.5:n.829_838del
ENST00000545446.5:n.630_639del
ENST00000546172.7:c.*335_*344del	ENSP00000467094.1:n.*335_*344del
ENST00000546283.5:c.339_348del	ENSP00000440348.1:p.Arg115ThrfsTer3
ENST00000618074.4:c.339_348del	ENSP00000477895.1:p.Arg115ThrfsTer3
ENST00000620479.4:c.339_348del	ENSP00000480984.1:p.Arg115ThrfsTer3
ENST00000622587.4:n.335_344del
NM_024407.4:c.339_348del	NP_077718.3:p.Arg115ThrfsTer3
XM_005259556.3:c.339_348del	XP_005259613.2:p.Arg115ThrfsTer3
NM_001363602.1:c.339_348del	NP_001350531.1:p.Arg115ThrfsTer3
XM_024451499.1:c.360_369del	XP_024307267.1:p.Arg122ThrfsTer3
NM_024407.5:c.339_348del MANE Select	NP_077718.3:p.Arg115ThrfsTer3
NM_001363602.2:c.339_348del	NP_001350531.1:p.Arg115ThrfsTer3