Canonical Allele Identifier: CA319981

Gene: NDUFS7

Linked Data

• ClinVar Variation Id: 214834
• ClinVar RCV Id: RCV000195624 ; RCV002282032
• dbSNP Id: rs11551664
• ExAC: 19:1390984 C / T
• gnomAD v2: 19-1390984-C-T
• gnomAD v3: 19-1390985-C-T
• gnomAD v4: 19-1390985-C-T
• MyVariant Identifiers: chr19:g.1390984C>T (hg19) ; chr19:g.1390985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390985C>T , CM000681.2:g.1390985C>T	GRCh38
NC_000019.9:g.1390984C>T , CM000681.1:g.1390984C>T	GRCh37
NC_000019.8:g.1341984C>T	NCBI36
NG_008283.1:g.12102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.343C>T MANE Select	ENSP00000233627.9:p.Arg115Cys
ENST00000233627.13:c.343C>T	ENSP00000233627.9:p.Arg115Cys
ENST00000313408.11:c.343C>T	ENSP00000364262.5:p.Arg115Cys
ENST00000414651.3:c.433C>T	ENSP00000406630.2:p.Arg145Cys
ENST00000436115.6:n.2298C>T
ENST00000534853.5:c.*137C>T	ENSP00000442822.1:n.*137C>T
ENST00000535382.1:n.595C>T
ENST00000538523.5:n.399C>T
ENST00000538662.5:n.370C>T
ENST00000538929.5:n.433C>T
ENST00000539480.5:c.343C>T	ENSP00000443273.1:p.Arg115Cys
ENST00000540530.5:n.334C>T
ENST00000543289.5:n.833C>T
ENST00000545446.5:n.634C>T
ENST00000546172.7:c.*339C>T	ENSP00000467094.1:n.*339C>T
ENST00000546283.5:c.343C>T	ENSP00000440348.1:p.Arg115Cys
ENST00000618074.4:c.343C>T	ENSP00000477895.1:p.Arg115Cys
ENST00000620479.4:c.343C>T	ENSP00000480984.1:p.Arg115Cys
ENST00000622587.4:n.339C>T
NM_024407.4:c.343C>T	NP_077718.3:p.Arg115Cys
XM_005259556.3:c.343C>T	XP_005259613.2:p.Arg115Cys
NM_001363602.1:c.343C>T	NP_001350531.1:p.Arg115Cys
XM_024451499.1:c.364C>T	XP_024307267.1:p.Arg122Cys
NM_024407.5:c.343C>T MANE Select	NP_077718.3:p.Arg115Cys
NM_001363602.2:c.343C>T	NP_001350531.1:p.Arg115Cys