ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099193
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522716
ClinVar RCV Id:
RCV000625869
RCV002248827
dbSNP Id:
rs2853493
MyVariant Identifiers:
chrMT:g.11467A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11467A>G , J01415.2:m.11467A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361381.2:c.708A>G
ENSP00000354961.2:p.Leu236=
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