Canonical Allele Identifier: CA942665720
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs2035146825
gnomAD v3: 11-117317215-G-T
gnomAD v4: 11-117317215-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317215G>T , CM000673.2:g.117317215G>T GRCh38
NC_000011.9:g.117187931G>T , CM000673.1:g.117187931G>T GRCh37
NC_000011.8:g.116693141G>T NCBI36
NG_029372.1:g.4042C>A
NG_033032.1:g.438G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2487G>T ENSP00000436609.1:n.-98+2487G>T
XM_017017364.1:c.-98+682G>T XP_016872853.1:n.-98+682G>T
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