ClinGen Allele Registry
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Canonical Allele Identifier:
CA120635
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9710
ClinVar RCV Id:
RCV000010356
RCV000055697
RCV000854742
dbSNP Id:
rs200873900
MyVariant Identifiers:
chrMT:g.11696G>A (hg38)
PubMed:
PMID:1469456
PMID:8644732
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11696G>A , J01415.2:m.11696G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361381.2:c.937G>A
ENSP00000354961.2:p.Val313Ile
Search 100 bp 5'
Search 100 bp 3'