Canonical Allele Identifier: CA414809549
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 693345
ClinVar RCV Id: RCV000854709
dbSNP Id: rs1603223126
MyVariant Identifiers: chrMT:g.11139T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.11139T>C , J01415.2:m.11139T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.380T>C ENSP00000354961.2:p.Ile127Thr