Canonical Allele Identifier: CA16040633
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370056
ClinVar RCV Id: RCV000408924 RCV000408939 RCV000408933 RCV000408948
dbSNP Id: rs1057516067
MyVariant Identifiers: chrMT:g.12013A>G (hg38)
PubMed: PMID:28027978
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12013A>G , J01415.2:m.12013A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1254A>G ENSP00000354961.2:p.Ser418=
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