Canonical Allele Identifier: CA340948

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 9732
• ClinVar RCV Id: RCV000010384 ; RCV002260596
• dbSNP Id: rs28616230
• MyVariant Identifiers: chrMT:g.4171C>A (hg38)
• PubMed: PMID:12112111 ; PMID:20301353
• ERepo: CA340948/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4171C>A , J01415.2:m.4171C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.865C>A	ENSP00000354687.2:p.Leu289Ile