Canonical Allele Identifier: CA405274838

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 962549
• ClinVar RCV Id: RCV001236426
• dbSNP Id: rs1967182334
• gnomAD v4: 19-33301922-G-T
• MyVariant Identifiers: chr19:g.33792828G>T (hg19) ; chr19:g.33301922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301922G>T , CM000681.2:g.33301922G>T	GRCh38
NC_000019.9:g.33792828G>T , CM000681.1:g.33792828G>T	GRCh37
NC_000019.8:g.38484668G>T	NCBI36
NG_012022.1:g.5603C>A , LRG_456:g.5603C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.493C>A MANE Select	ENSP00000427514.1:p.Arg165Ser
ENST00000498907.2:c.493C>A	ENSP00000427514.1:p.Arg165Ser
NM_001285829.1:c.136C>A	NP_001272758.1:p.Arg46Ser
NM_001287424.1:c.598C>A	NP_001274353.1:p.Arg200Ser
NM_001287435.1:c.451C>A	NP_001274364.1:p.Arg151Ser
NM_004364.4:c.493C>A	NP_004355.2:p.Arg165Ser
NM_001287424.2:c.598C>A	NP_001274353.1:p.Arg200Ser
NM_004364.5:c.493C>A MANE Select	NP_004355.2:p.Arg165Ser
NM_001285829.2:c.136C>A	NP_001272758.1:p.Arg46Ser
NM_001287435.2:c.451C>A	NP_001274364.1:p.Arg151Ser