Canonical Allele Identifier: CA120636
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 9711
ClinVar RCV Id: RCV000010357 RCV000144013 RCV000854746 RCV002260594
dbSNP Id: rs28384199
MyVariant Identifiers: chrMT:g.11777C>A (hg38)
ERepo: CA120636/MONDO:0044970/014
PubMed: PMID:12707444 PMID:15576045 PMID:16120329 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.11777C>A , J01415.2:m.11777C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1018C>A ENSP00000354961.2:p.Arg340Ser
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