Canonical Allele Identifier: CA8071163
Gene: CETP HGNC NCBI

Linked Data

ClinVar Variation Id: 319985
ClinVar RCV Id: RCV000300944 RCV000730700
dbSNP Id: rs140547417
ExAC: 16:57009022 G / A
gnomAD v2: 16-57009022-G-A
gnomAD v3: 16-56975110-G-A
gnomAD v4: 16-56975110-G-A
MyVariant Identifiers: chr16:g.57009022G>A (hg19) chr16:g.56975110G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56975110G>A , CM000678.2:g.56975110G>A GRCh38
NC_000016.9:g.57009022G>A , CM000678.1:g.57009022G>A GRCh37
NC_000016.8:g.55566523G>A NCBI36
NG_008952.1:g.18188G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000200676.8:c.940G>A MANE Select ENSP00000200676.3:p.Glu314Lys
ENST00000200676.7:c.940G>A ENSP00000200676.3:p.Glu314Lys
ENST00000379780.6:c.760G>A ENSP00000369106.2:p.Glu254Lys
ENST00000566128.1:c.745G>A ENSP00000456276.1:p.Glu249Lys
NM_000078.2:c.940G>A NP_000069.2:p.Glu314Lys
NM_001286085.1:c.760G>A NP_001273014.1:p.Glu254Lys
NM_000078.3:c.940G>A MANE Select NP_000069.2:p.Glu314Lys
NM_001286085.2:c.760G>A NP_001273014.1:p.Glu254Lys
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