Canonical Allele Identifier: CA120635

Gene: MT-ND4

Linked Data

• ClinVar Variation Id: 9710
• ClinVar RCV Id: RCV000010356 ; RCV000055697 ; RCV000854742
• dbSNP Id: rs200873900
• MyVariant Identifiers: chrMT:g.11696G>A (hg38)
• PubMed: PMID:1469456 ; PMID:8644732 ; PMID:20301353

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.11696G>A , J01415.2:m.11696G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361381.2:c.937G>A	ENSP00000354961.2:p.Val313Ile