ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099111
Gene: MT-ND4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693351
ClinVar RCV Id:
RCV000854715
dbSNP Id:
rs28358284
MyVariant Identifiers:
chrMT:g.11177C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.11177C>T , J01415.2:m.11177C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361381.2:c.418C>T
ENSP00000354961.2:p.Pro140Ser
Search 100 bp 5'
Search 100 bp 3'