Canonical Allele Identifier: CA414812252
Gene: MT-ND4 HGNC NCBI

Linked Data

dbSNP Id: rs2124596994
MyVariant Identifiers: chrMT:g.12047T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12047T>C , J01415.2:m.12047T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1288T>C ENSP00000354961.2:p.Phe430Leu
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