Canonical Allele Identifier: CA380361703
Gene: NDUFS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305082
ClinVar RCV Id: RCV001773792
dbSNP Id: rs550477502
gnomAD v2: 11-47603931-A-C
gnomAD v3: 11-47582379-A-C
gnomAD v4: 11-47582379-A-C
MyVariant Identifiers: chr11:g.47603931A>C (hg19) chr11:g.47582379A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582379A>C , CM000673.2:g.47582379A>C GRCh38
NC_000011.9:g.47603931A>C , CM000673.1:g.47603931A>C GRCh37
NC_000011.8:g.47560507A>C NCBI36
NG_011946.1:g.8370A>C
NG_011946.2:g.8370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.538A>C MANE Select ENSP00000263774.4:p.Asn180His
ENST00000531351.2:n.1733A>C
ENST00000677462.1:n.3012A>C
ENST00000678975.1:n.2795A>C
ENST00000263774.8:c.538A>C ENSP00000263774.4:p.Asn180His
ENST00000524568.1:n.641A>C
ENST00000525212.1:n.193A>C
ENST00000525378.5:n.476A>C
ENST00000527178.1:n.138A>C
ENST00000533507.5:n.1432A>C
NM_004551.2:c.538A>C NP_004542.1:p.Asn180His
NM_004551.3:c.538A>C MANE Select NP_004542.1:p.Asn180His
Search 100 bp 5'
Search 100 bp 3'