Canonical Allele Identifier: CA9363660

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 239918
• ClinVar RCV Id: RCV000230660 ; RCV002255141 ; RCV003148688
• dbSNP Id: rs372931505
• ExAC: 19:33792300 T / C
• gnomAD v2: 19-33792300-T-C
• gnomAD v3: 19-33301394-T-C
• gnomAD v4: 19-33301394-T-C
• COSMIC: COSM5065132
• MyVariant Identifiers: chr19:g.33792300T>C (hg19) ; chr19:g.33301394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301394T>C , CM000681.2:g.33301394T>C	GRCh38
NC_000019.9:g.33792300T>C , CM000681.1:g.33792300T>C	GRCh37
NC_000019.8:g.38484140T>C	NCBI36
NG_012022.1:g.6131A>G , LRG_456:g.6131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.1021A>G MANE Select	ENSP00000427514.1:p.Ile341Val
ENST00000498907.2:c.1021A>G	ENSP00000427514.1:p.Ile341Val
NM_001285829.1:c.664A>G	NP_001272758.1:p.Ile222Val
NM_001287424.1:c.1126A>G	NP_001274353.1:p.Ile376Val
NM_001287435.1:c.979A>G	NP_001274364.1:p.Ile327Val
NM_004364.4:c.1021A>G	NP_004355.2:p.Ile341Val
NM_001287424.2:c.1126A>G	NP_001274353.1:p.Ile376Val
NM_004364.5:c.1021A>G MANE Select	NP_004355.2:p.Ile341Val
NM_001285829.2:c.664A>G	NP_001272758.1:p.Ile222Val
NM_001287435.2:c.979A>G	NP_001274364.1:p.Ile327Val