Canonical Allele Identifier: CA340942

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 9723
• ClinVar RCV Id: RCV000010372
• dbSNP Id: rs199476119
• MyVariant Identifiers: chrMT:g.4160T>C (hg38)
• PubMed: PMID:1928099 ; PMID:20301353
• ERepo: CA340942/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4160T>C , J01415.2:m.4160T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.854T>C	ENSP00000354687.2:p.Leu285Pro