Canonical Allele Identifier: CA672246849
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs1468204324
gnomAD v3: 11-117317264-A-G
gnomAD v4: 11-117317264-A-G
MyVariant Identifiers: chr11:g.117187980A>G (hg19) chr11:g.117317264A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317264A>G , CM000673.2:g.117317264A>G GRCh38
NC_000011.9:g.117187980A>G , CM000673.1:g.117187980A>G GRCh37
NC_000011.8:g.116693190A>G NCBI36
NG_029372.1:g.3993T>C
NG_033032.1:g.487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2536A>G ENSP00000436609.1:n.-98+2536A>G
XM_017017364.1:c.-98+731A>G XP_016872853.1:n.-98+731A>G
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