Canonical Allele Identifier: CA942665737
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs2035147333
gnomAD v3: 11-117317235-C-T
gnomAD v4: 11-117317235-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317235C>T , CM000673.2:g.117317235C>T GRCh38
NC_000011.9:g.117187951C>T , CM000673.1:g.117187951C>T GRCh37
NC_000011.8:g.116693161C>T NCBI36
NG_029372.1:g.4022G>A
NG_033032.1:g.458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2507C>T ENSP00000436609.1:n.-98+2507C>T
XM_017017364.1:c.-98+702C>T XP_016872853.1:n.-98+702C>T
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