Canonical Allele Identifier: CA405274817
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2781427
ClinVar RCV Id: RCV003633806

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33301913C>T , CM000681.2:g.33301913C>T GRCh38
NC_000019.9:g.33792819C>T , CM000681.1:g.33792819C>T GRCh37
NC_000019.8:g.38484659C>T NCBI36
NG_012022.1:g.5612G>A , LRG_456:g.5612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.502G>A MANE Select ENSP00000427514.1:p.Asp168Asn
ENST00000498907.2:c.502G>A ENSP00000427514.1:p.Asp168Asn
NM_001285829.1:c.145G>A NP_001272758.1:p.Asp49Asn
NM_001287424.1:c.607G>A NP_001274353.1:p.Asp203Asn
NM_001287435.1:c.460G>A NP_001274364.1:p.Asp154Asn
NM_004364.4:c.502G>A NP_004355.2:p.Asp168Asn
NM_001287424.2:c.607G>A NP_001274353.1:p.Asp203Asn
NM_004364.5:c.502G>A MANE Select NP_004355.2:p.Asp168Asn
NM_001285829.2:c.145G>A NP_001272758.1:p.Asp49Asn
NM_001287435.2:c.460G>A NP_001274364.1:p.Asp154Asn