ClinGen Allele Registry
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Canonical Allele Identifier:
CA340939
Gene: MT-ND4
HGNC
NCBI
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Pathogenic
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.11778G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010354
RCV000224219
RCV002260593
RCV002285007
RCV002288481
ClinVar Variation:
9708
dbSNP:
199476112
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11778G>A , J01415.2:m.11778G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.1019G>A
ENSP00000354961.2:p.Arg340His
Search 100 bp 5'
Search 100 bp 3'