Allele Registry

Canonical Allele Identifier: CA254862

Gene: MT-ND1 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSM1138366

COSM1138367

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3946G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010387

RCV000853718

RCV001542704

ClinVar Variation:

9734

dbSNP:

199476123

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

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