Canonical Allele Identifier: CA229356661

Gene: CEP164

Linked Data

• dbSNP Id: rs562180428 ; rs2133528745
• gnomAD v2: 11-117188105-G-A
• gnomAD v3: 11-117317389-G-A
• gnomAD v4: 11-117317389-G-A
• MyVariant Identifiers: chr11:g.117188105G>A (hg19) ; chr11:g.117317389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317389G>A , CM000673.2:g.117317389G>A	GRCh38
NC_000011.9:g.117188105G>A , CM000673.1:g.117188105G>A	GRCh37
NC_000011.8:g.116693315G>A	NCBI36
NG_029372.1:g.3868C>T
NG_033032.1:g.612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2661G>A	ENSP00000436609.1:n.-98+2661G>A
XM_017017364.1:c.-98+856G>A	XP_016872853.1:n.-98+856G>A