ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337099193
Gene: MT-ND4
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.11467A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000625869
RCV002248827
ClinVar Variation:
522716
dbSNP:
2853493
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=
Search 100 bp 5'
Search 100 bp 3'