Canonical Allele Identifier: CA3291594
Gene: CENPH HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.69189654T>G
GRCh37 chr5:g.68485481T>G
Revel Score:
ENST00000283006 (MANE Select) 0.038
ENST00000515001 0.038
gnomAD v2:
5:68485481 T / G
gnomAD v3:
5:69189654 T / G
gnomAD v4:
chr5-69189654-T-G
Joint Max Group AF 0.00005811 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00005817 (NFE)
ClinVar RCV:
RCV004208171
ClinVar Variation:
2373181
dbSNP:
375193070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69189654T>G , CM000667.2:g.69189654T>G GRCh38
NC_000005.9:g.68485481T>G , CM000667.1:g.68485481T>G GRCh37
NC_000005.8:g.68521237T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283006.7:c.20T>G MANE Select ENSP00000283006.2:p.Met7Arg
ENST00000283006.6:c.20T>G ENSP00000283006.2:p.Met7Arg
ENST00000513575.5:c.20T>G ENSP00000422665.1:p.Met7Arg
ENST00000514753.1:n.9T>G
ENST00000515001.5:c.20T>G ENSP00000426014.1:p.Met7Arg
NM_022909.3:c.20T>G NP_075060.1:p.Met7Arg
NM_022909.4:c.20T>G MANE Select NP_075060.1:p.Met7Arg
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