Canonical Allele Identifier: CA414774324
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692430
ClinVar RCV Id: RCV000853743
dbSNP Id: rs1603219331
MyVariant Identifiers: chrMT:g.4165C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4165C>G , J01415.2:m.4165C>G GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.859C>G ENSP00000354687.2:p.His287Asp