Canonical Allele Identifier: CA254862

Gene: MT-ND1

Linked Data

• ClinVar Variation Id: 9734
• ClinVar RCV Id: RCV000010387 ; RCV000853718 ; RCV001542704
• dbSNP Id: rs199476123
• COSMIC: COSM1138366 ; COSM1138367
• MyVariant Identifiers: chrMT:g.3946G>A (hg38)
• PubMed: PMID:15466014

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3946G>A , J01415.2:m.3946G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.640G>A	ENSP00000354687.2:p.Glu214Lys