Allele Registry

Canonical Allele Identifier: CA120636

Gene: MT-ND4 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.11777C>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010357

RCV000144013

RCV000854746

RCV002260594

ClinVar Variation:

9711

dbSNP:

28384199

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

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