Canonical Allele Identifier: CA601838761
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1476305277 rs2133528569
gnomAD v2: 11-117187965-G-A
gnomAD v3: 11-117317249-G-A
gnomAD v4: 11-117317249-G-A
MyVariant Identifiers: chr11:g.117187965G>A (hg19) chr11:g.117317249G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317249G>A , CM000673.2:g.117317249G>A GRCh38
NC_000011.9:g.117187965G>A , CM000673.1:g.117187965G>A GRCh37
NC_000011.8:g.116693175G>A NCBI36
NG_029372.1:g.4008C>T
NG_033032.1:g.472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2521G>A ENSP00000436609.1:n.-98+2521G>A
XM_017017364.1:c.-98+716G>A XP_016872853.1:n.-98+716G>A
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