Canonical Allele Identifier: CA8070773
Gene: CETP HGNC NCBI
COSMIC:
COSN19663618 (not active)
COSN26729900 (not active)
MyVariant.info:
GRCh38 chr16:g.56962376G>A
GRCh37 chr16:g.56996288G>A
gnomAD v2:
16:56996288 G / A
gnomAD v3:
16:56962376 G / A
gnomAD v4:
chr16-56962376-G-A
Joint Max Group AF 0.46604547 (SAS)
Genomes Max Group AF 0.44580242 (SAS)
Exomes Max Group AF 0.46649164 (SAS)
ClinVar RCV:
RCV001637726
RCV002243347
ClinVar Variation:
1239762
dbSNP:
708272
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56962376G>A , CM000678.2:g.56962376G>A GRCh38
NC_000016.9:g.56996288G>A , CM000678.1:g.56996288G>A GRCh37
NC_000016.8:g.55553789G>A NCBI36
NG_008952.1:g.5454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.118+279G>A MANE Select ENSP00000200676.3:n.118+279G>A
ENST00000200676.7:c.118+279G>A ENSP00000200676.3:n.118+279G>A
ENST00000379780.6:c.118+279G>A ENSP00000369106.2:n.118+279G>A
ENST00000566128.1:c.-78+80G>A ENSP00000456276.1:n.-78+80G>A
ENST00000569082.1:n.116+279G>A
NM_000078.2:c.118+279G>A NP_000069.2:n.118+279G>A
NM_001286085.1:c.118+279G>A NP_001273014.1:n.118+279G>A
XM_006721124.2:c.118+279G>A XP_006721187.1:n.118+279G>A
XM_006721124.3:c.118+279G>A XP_006721187.1:n.118+279G>A
NM_000078.3:c.118+279G>A MANE Select NP_000069.2:n.118+279G>A
NM_001286085.2:c.118+279G>A NP_001273014.1:n.118+279G>A
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