Canonical Allele Identifier: CA14221138
Gene: CETP HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.56978467T>G
GRCh37 chr16:g.57012379T>G
gnomAD v2:
16:57012379 T / G
gnomAD v3:
16:56978467 T / G
gnomAD v4:
chr16-56978467-T-G
Joint Max Group AF 0.37345891 (AFR)
Genomes Max Group AF 0.37345891 (AFR)
ClinVar RCV:
RCV001695047
ClinVar Variation:
1278306
dbSNP:
12708980
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56978467T>G , CM000678.2:g.56978467T>G GRCh38
NC_000016.9:g.57012379T>G , CM000678.1:g.57012379T>G GRCh37
NC_000016.8:g.55569880T>G NCBI36
NG_008952.1:g.21545T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000200676.8:c.1146+212T>G MANE Select ENSP00000200676.3:n.1146+212T>G
ENST00000650358.1:n.1544+212T>G
ENST00000200676.7:c.1146+212T>G ENSP00000200676.3:n.1146+212T>G
ENST00000379780.6:c.966+212T>G ENSP00000369106.2:n.966+212T>G
ENST00000566128.1:c.951+212T>G ENSP00000456276.1:n.951+212T>G
NM_000078.2:c.1146+212T>G NP_000069.2:n.1146+212T>G
NM_001286085.1:c.966+212T>G NP_001273014.1:n.966+212T>G
NM_000078.3:c.1146+212T>G MANE Select NP_000069.2:n.1146+212T>G
NM_001286085.2:c.966+212T>G NP_001273014.1:n.966+212T>G
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