Canonical Allele Identifier: CA9363709

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 415193
• ClinVar RCV Id: RCV000477639 ; RCV001683516 ; RCV001821357 ; RCV002256308 ; RCV003972785
• dbSNP Id: rs538441046
• ExAC: 19:33792760 C / G
• gnomAD v2: 19-33792760-C-G
• gnomAD v3: 19-33301854-C-G
• gnomAD v4: 19-33301854-C-G
• MyVariant Identifiers: chr19:g.33792760C>G (hg19) ; chr19:g.33301854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301854C>G , CM000681.2:g.33301854C>G	GRCh38
NC_000019.9:g.33792760C>G , CM000681.1:g.33792760C>G	GRCh37
NC_000019.8:g.38484600C>G	NCBI36
NG_012022.1:g.5671G>C , LRG_456:g.5671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.561G>C MANE Select	ENSP00000427514.1:p.Pro187=
ENST00000498907.2:c.561G>C	ENSP00000427514.1:p.Pro187=
NM_001285829.1:c.204G>C	NP_001272758.1:p.Pro68=
NM_001287424.1:c.666G>C	NP_001274353.1:p.Pro222=
NM_001287435.1:c.519G>C	NP_001274364.1:p.Pro173=
NM_004364.4:c.561G>C	NP_004355.2:p.Pro187=
NM_001287424.2:c.666G>C	NP_001274353.1:p.Pro222=
NM_004364.5:c.561G>C MANE Select	NP_004355.2:p.Pro187=
NM_001285829.2:c.204G>C	NP_001272758.1:p.Pro68=
NM_001287435.2:c.519G>C	NP_001274364.1:p.Pro173=