Canonical Allele Identifier: CA229356598

Gene: CEP164

Linked Data

• dbSNP Id: rs959485767
• gnomAD v3: 11-117317278-G-C
• gnomAD v4: 11-117317278-G-C
• MyVariant Identifiers: chr11:g.117187994G>C (hg19) ; chr11:g.117317278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317278G>C , CM000673.2:g.117317278G>C	GRCh38
NC_000011.9:g.117187994G>C , CM000673.1:g.117187994G>C	GRCh37
NC_000011.8:g.116693204G>C	NCBI36
NG_029372.1:g.3979C>G
NG_033032.1:g.501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2550G>C	ENSP00000436609.1:n.-98+2550G>C
XM_017017364.1:c.-98+745G>C	XP_016872853.1:n.-98+745G>C