Allele Registry

Canonical Allele Identifier: CA344820

Gene: MT-ND4 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.11253T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000055696

RCV000854721

ClinVar Variation:

65509

dbSNP:

200145866

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.11253T>C , J01415.2:m.11253T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361381.2:c.494T>C	ENSP00000354961.2:p.Ile165Thr

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