Canonical Allele Identifier: CA229356695
Gene: CEP164 HGNC NCBI

Linked Data

dbSNP Id: rs999804894 rs2133528784
gnomAD v2: 11-117188117-C-T
gnomAD v3: 11-117317401-C-T
gnomAD v4: 11-117317401-C-T
MyVariant Identifiers: chr11:g.117188117C>T (hg19) chr11:g.117317401C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117317401C>T , CM000673.2:g.117317401C>T GRCh38
NC_000011.9:g.117188117C>T , CM000673.1:g.117188117C>T GRCh37
NC_000011.8:g.116693327C>T NCBI36
NG_029372.1:g.3856G>A
NG_033032.1:g.624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525734.5:c.-98+2673C>T ENSP00000436609.1:n.-98+2673C>T
XM_017017364.1:c.-98+868C>T XP_016872853.1:n.-98+868C>T
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