Canonical Allele Identifier: CA2002992373
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs2035153082
gnomAD v3: 11-117317399-C-A
gnomAD v4: 11-117317399-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317399C>A , CM000673.2:g.117317399C>A GRCh38
NC_000011.9:g.117188115C>A , CM000673.1:g.117188115C>A GRCh37
NC_000011.8:g.116693325C>A NCBI36
NG_029372.1:g.3858G>T
NG_033032.1:g.622C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2671C>A ENSP00000436609.1:n.-98+2671C>A
XM_017017364.1:c.-98+866C>A XP_016872853.1:n.-98+866C>A
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