Canonical Allele Identifier: CA414774512
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692443
ClinVar RCV Id: RCV000853758
dbSNP Id: rs1603219376
MyVariant Identifiers: chrMT:g.4247T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4247T>C , J01415.2:m.4247T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.941T>C ENSP00000354687.2:p.Ile314Thr
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