Canonical Allele Identifier: CA414812223
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 693405
ClinVar RCV Id: RCV000854773
dbSNP Id: rs1603223523
MyVariant Identifiers: chrMT:g.12040A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12040A>T , J01415.2:m.12040A>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1281A>T ENSP00000354961.2:p.Lys427Asn
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