Canonical Allele Identifier: CA405274835

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 1042495
• ClinVar RCV Id: RCV001346461
• dbSNP Id: rs1481086547
• gnomAD v2: 19-33792827-C-T
• gnomAD v4: 19-33301921-C-T
• MyVariant Identifiers: chr19:g.33792827C>T (hg19) ; chr19:g.33301921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301921C>T , CM000681.2:g.33301921C>T	GRCh38
NC_000019.9:g.33792827C>T , CM000681.1:g.33792827C>T	GRCh37
NC_000019.8:g.38484667C>T	NCBI36
NG_012022.1:g.5604G>A , LRG_456:g.5604G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.494G>A MANE Select	ENSP00000427514.1:p.Arg165His
ENST00000498907.2:c.494G>A	ENSP00000427514.1:p.Arg165His
NM_001285829.1:c.137G>A	NP_001272758.1:p.Arg46His
NM_001287424.1:c.599G>A	NP_001274353.1:p.Arg200His
NM_001287435.1:c.452G>A	NP_001274364.1:p.Arg151His
NM_004364.4:c.494G>A	NP_004355.2:p.Arg165His
NM_001287424.2:c.599G>A	NP_001274353.1:p.Arg200His
NM_004364.5:c.494G>A MANE Select	NP_004355.2:p.Arg165His
NM_001285829.2:c.137G>A	NP_001272758.1:p.Arg46His
NM_001287435.2:c.452G>A	NP_001274364.1:p.Arg151His