Canonical Allele Identifier: CA601838779

Gene: CEP164

Linked Data

• dbSNP Id: rs1224529924 ; rs2133528828
• gnomAD v2: 11-117188158-T-C
• gnomAD v3: 11-117317442-T-C
• gnomAD v4: 11-117317442-T-C
• MyVariant Identifiers: chr11:g.117188158T>C (hg19) ; chr11:g.117317442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317442T>C , CM000673.2:g.117317442T>C	GRCh38
NC_000011.9:g.117188158T>C , CM000673.1:g.117188158T>C	GRCh37
NC_000011.8:g.116693368T>C	NCBI36
NG_029372.1:g.3815A>G
NG_033032.1:g.665T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525734.5:c.-98+2714T>C	ENSP00000436609.1:n.-98+2714T>C
XM_017017364.1:c.-98+909T>C	XP_016872853.1:n.-98+909T>C