Canonical Allele Identifier: CA8070732
Gene: CETP HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56962023C>G
GRCh37 chr16:g.56995935C>G
Revel Score:
ENST00000200676 (MANE Select) 0.013
ENST00000379780 0.013
gnomAD v2:
16:56995935 C / G
gnomAD v3:
16:56962023 C / G
gnomAD v4:
chr16-56962023-C-G
Joint Max Group AF 0.06629216 (AFR)
Genomes Max Group AF 0.06537981 (AFR)
Exomes Max Group AF 0.06599642 (AFR)
ClinVar Allele:
343500
ClinVar RCV:
RCV000371616
RCV000966006
ClinVar Variation:
319970
dbSNP:
34065661
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56962023C>G , CM000678.2:g.56962023C>G GRCh38
NC_000016.9:g.56995935C>G , CM000678.1:g.56995935C>G GRCh37
NC_000016.8:g.55553436C>G NCBI36
NG_008952.1:g.5101C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.44C>G MANE Select ENSP00000200676.3:p.Ala15Gly
ENST00000200676.7:c.44C>G ENSP00000200676.3:p.Ala15Gly
ENST00000379780.6:c.44C>G ENSP00000369106.2:p.Ala15Gly
ENST00000569082.1:n.42C>G
NM_000078.2:c.44C>G NP_000069.2:p.Ala15Gly
NM_001286085.1:c.44C>G NP_001273014.1:p.Ala15Gly
XM_006721124.2:c.44C>G XP_006721187.1:p.Ala15Gly
XM_006721124.3:c.44C>G XP_006721187.1:p.Ala15Gly
NM_000078.3:c.44C>G MANE Select NP_000069.2:p.Ala15Gly
NM_001286085.2:c.44C>G NP_001273014.1:p.Ala15Gly
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