Canonical Allele Identifier: CA672246919

Gene: CEP164

Linked Data

• dbSNP Id: rs992572469
• gnomAD v3: 11-117317405-G-C
• gnomAD v4: 11-117317405-G-C
• MyVariant Identifiers: chr11:g.117188121G>C (hg19) ; chr11:g.117317405G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317405G>C , CM000673.2:g.117317405G>C	GRCh38
NC_000011.9:g.117188121G>C , CM000673.1:g.117188121G>C	GRCh37
NC_000011.8:g.116693331G>C	NCBI36
NG_029372.1:g.3852C>G
NG_033032.1:g.628G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525734.5:c.-98+2677G>C	ENSP00000436609.1:n.-98+2677G>C
XM_017017364.1:c.-98+872G>C	XP_016872853.1:n.-98+872G>C