Canonical Allele Identifier: CA2580084200

Gene: NDUFS3

Linked Data

• ClinVar Variation Id: 2095644
• ClinVar RCV Id: RCV003028034
• gnomAD v4: 11-47582338-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582338C>G , CM000673.2:g.47582338C>G	GRCh38
NC_000011.9:g.47603890C>G , CM000673.1:g.47603890C>G	GRCh37
NC_000011.8:g.47560466C>G	NCBI36
NG_011946.1:g.8329C>G
NG_011946.2:g.8329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.508-11C>G MANE Select	ENSP00000263774.4:n.508-11C>G
ENST00000531351.2:n.1692C>G
ENST00000677462.1:n.2982-11C>G
ENST00000678975.1:n.2765-11C>G
ENST00000263774.8:c.508-11C>G	ENSP00000263774.4:n.508-11C>G
ENST00000524568.1:n.611-11C>G
ENST00000525212.1:n.163-11C>G
ENST00000525378.5:n.446-11C>G
ENST00000527178.1:n.97C>G
ENST00000533507.5:n.1402-11C>G
NM_004551.2:c.508-11C>G	NP_004542.1:n.508-11C>G
NM_004551.3:c.508-11C>G MANE Select	NP_004542.1:n.508-11C>G