Canonical Allele Identifier: CA229356577

Gene: CEP164

Linked Data

• dbSNP Id: rs113838936 ; rs2119656050 ; rs2119656060
• gnomAD v2: 11-117187943-G-C
• gnomAD v3: 11-117317227-G-C
• gnomAD v4: 11-117317227-G-C
• MyVariant Identifiers: chr11:g.117187943G>C (hg19) ; chr11:g.117317227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317227G>C , CM000673.2:g.117317227G>C	GRCh38
NC_000011.9:g.117187943G>C , CM000673.1:g.117187943G>C	GRCh37
NC_000011.8:g.116693153G>C	NCBI36
NG_029372.1:g.4030C>G
NG_033032.1:g.450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2499G>C	ENSP00000436609.1:n.-98+2499G>C
XM_017017364.1:c.-98+694G>C	XP_016872853.1:n.-98+694G>C