Canonical Allele Identifier: CA9363713

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 239923
• ClinVar RCV Id: RCV000228805 ; RCV000499387 ; RCV001529423 ; RCV002256166 ; RCV003937905
• dbSNP Id: rs752254340
• ExAC: 19:33792919 C / T
• gnomAD v2: 19-33792919-C-T
• gnomAD v3: 19-33302013-C-T
• gnomAD v4: 19-33302013-C-T
• COSMIC: COSM18633
• MyVariant Identifiers: chr19:g.33792919C>T (hg19) ; chr19:g.33302013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302013C>T , CM000681.2:g.33302013C>T	GRCh38
NC_000019.9:g.33792919C>T , CM000681.1:g.33792919C>T	GRCh37
NC_000019.8:g.38484759C>T	NCBI36
NG_012022.1:g.5512G>A , LRG_456:g.5512G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.402G>A MANE Select	ENSP00000427514.1:p.Ala134=
ENST00000498907.2:c.402G>A	ENSP00000427514.1:p.Ala134=
NM_001285829.1:c.45G>A	NP_001272758.1:p.Ala15=
NM_001287424.1:c.507G>A	NP_001274353.1:p.Ala169=
NM_001287435.1:c.360G>A	NP_001274364.1:p.Ala120=
NM_004364.4:c.402G>A	NP_004355.2:p.Ala134=
NM_001287424.2:c.507G>A	NP_001274353.1:p.Ala169=
NM_004364.5:c.402G>A MANE Select	NP_004355.2:p.Ala134=
NM_001285829.2:c.45G>A	NP_001272758.1:p.Ala15=
NM_001287435.2:c.360G>A	NP_001274364.1:p.Ala120=