Canonical Allele Identifier: CA292502

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 138490
• ClinVar RCV Id: RCV000127155 ; RCV000969794 ; RCV001000472 ; RCV001107482 ; RCV001107483
• dbSNP Id: rs77113494
• ExAC: 11:47603984 T / C
• gnomAD v2: 11-47603984-T-C
• gnomAD v3: 11-47582432-T-C
• gnomAD v4: 11-47582432-T-C
• MyVariant Identifiers: chr11:g.47603984T>C (hg19) ; chr11:g.47582432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582432T>C , CM000673.2:g.47582432T>C	GRCh38
NC_000011.9:g.47603984T>C , CM000673.1:g.47603984T>C	GRCh37
NC_000011.8:g.47560560T>C	NCBI36
NG_011946.1:g.8423T>C
NG_011946.2:g.8423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.591T>C MANE Select	ENSP00000263774.4:p.Pro197=
ENST00000531351.2:n.1786T>C
ENST00000677462.1:n.3065T>C
ENST00000678975.1:n.2848T>C
ENST00000263774.8:c.591T>C	ENSP00000263774.4:p.Pro197=
ENST00000524568.1:n.694T>C
ENST00000525212.1:n.246T>C
ENST00000525378.5:n.529T>C
ENST00000527178.1:n.191T>C
ENST00000533507.5:n.1485T>C
NM_004551.2:c.591T>C	NP_004542.1:p.Pro197=
NM_004551.3:c.591T>C MANE Select	NP_004542.1:p.Pro197=