Canonical Allele Identifier: CA229356593
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs756612641 rs2133528551
gnomAD v3: 11-117317246-C-T
gnomAD v4: 11-117317246-C-T
MyVariant Identifiers: chr11:g.117187962C>T (hg19) chr11:g.117317246C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317246C>T , CM000673.2:g.117317246C>T GRCh38
NC_000011.9:g.117187962C>T , CM000673.1:g.117187962C>T GRCh37
NC_000011.8:g.116693172C>T NCBI36
NG_029372.1:g.4011G>A
NG_033032.1:g.469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2518C>T ENSP00000436609.1:n.-98+2518C>T
XM_017017364.1:c.-98+713C>T XP_016872853.1:n.-98+713C>T
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