Canonical Allele Identifier: CA5978040
Gene: NDUFS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024010
ClinVar RCV Id: RCV002875994
dbSNP Id: rs761640106
ExAC: 11:47604014 T / C
gnomAD v2: 11-47604014-T-C
gnomAD v4: 11-47582462-T-C
MyVariant Identifiers: chr11:g.47604014T>C (hg19) chr11:g.47582462T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582462T>C , CM000673.2:g.47582462T>C GRCh38
NC_000011.9:g.47604014T>C , CM000673.1:g.47604014T>C GRCh37
NC_000011.8:g.47560590T>C NCBI36
NG_011946.1:g.8453T>C
NG_011946.2:g.8453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.621T>C MANE Select ENSP00000263774.4:p.Tyr207=
ENST00000531351.2:n.1816T>C
ENST00000677462.1:n.3095T>C
ENST00000678975.1:n.2878T>C
ENST00000263774.8:c.621T>C ENSP00000263774.4:p.Tyr207=
ENST00000524568.1:n.724T>C
ENST00000525212.1:n.276T>C
ENST00000525378.5:n.559T>C
ENST00000527178.1:n.221T>C
ENST00000533507.5:n.1515T>C
NM_004551.2:c.621T>C NP_004542.1:p.Tyr207=
NM_004551.3:c.621T>C MANE Select NP_004542.1:p.Tyr207=
Search 100 bp 5'
Search 100 bp 3'