Canonical Allele Identifier: CA601838763
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1422884907 rs2133528600
gnomAD v2: 11-117188013-C-G
gnomAD v3: 11-117317297-C-G
gnomAD v4: 11-117317297-C-G
MyVariant Identifiers: chr11:g.117188013C>G (hg19) chr11:g.117317297C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317297C>G , CM000673.2:g.117317297C>G GRCh38
NC_000011.9:g.117188013C>G , CM000673.1:g.117188013C>G GRCh37
NC_000011.8:g.116693223C>G NCBI36
NG_029372.1:g.3960G>C
NG_033032.1:g.520C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525734.5:c.-98+2569C>G ENSP00000436609.1:n.-98+2569C>G
XM_017017364.1:c.-98+764C>G XP_016872853.1:n.-98+764C>G
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