Canonical Allele Identifier: CA672246869
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1457359266
gnomAD v3: 11-117317289-A-T
gnomAD v4: 11-117317289-A-T
MyVariant Identifiers: chr11:g.117188005A>T (hg19) chr11:g.117317289A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317289A>T , CM000673.2:g.117317289A>T GRCh38
NC_000011.9:g.117188005A>T , CM000673.1:g.117188005A>T GRCh37
NC_000011.8:g.116693215A>T NCBI36
NG_029372.1:g.3968T>A
NG_033032.1:g.512A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2561A>T ENSP00000436609.1:n.-98+2561A>T
XM_017017364.1:c.-98+756A>T XP_016872853.1:n.-98+756A>T
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