Canonical Allele Identifier: CA120636

Gene: MT-ND4

Linked Data

• ClinVar Variation Id: 9711
• ClinVar RCV Id: RCV000010357 ; RCV000144013 ; RCV000854746 ; RCV002260594
• dbSNP Id: rs28384199
• MyVariant Identifiers: chrMT:g.11777C>A (hg38)
• ERepo: CA120636/MONDO:0044970/014
• PubMed: PMID:12707444 ; PMID:15576045 ; PMID:16120329 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.11777C>A , J01415.2:m.11777C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361381.2:c.1018C>A	ENSP00000354961.2:p.Arg340Ser