Canonical Allele Identifier: CA405275046

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 1460649
• ClinVar RCV Id: RCV001951701
• dbSNP Id: rs1038352346
• gnomAD v4: 19-33302021-C-G
• MyVariant Identifiers: chr19:g.33792927C>G (hg19) ; chr19:g.33302021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302021C>G , CM000681.2:g.33302021C>G	GRCh38
NC_000019.9:g.33792927C>G , CM000681.1:g.33792927C>G	GRCh37
NC_000019.8:g.38484767C>G	NCBI36
NG_012022.1:g.5504G>C , LRG_456:g.5504G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.394G>C MANE Select	ENSP00000427514.1:p.Gly132Arg
ENST00000498907.2:c.394G>C	ENSP00000427514.1:p.Gly132Arg
NM_001285829.1:c.37G>C	NP_001272758.1:p.Gly13Arg
NM_001287424.1:c.499G>C	NP_001274353.1:p.Gly167Arg
NM_001287435.1:c.352G>C	NP_001274364.1:p.Gly118Arg
NM_004364.4:c.394G>C	NP_004355.2:p.Gly132Arg
NM_001287424.2:c.499G>C	NP_001274353.1:p.Gly167Arg
NM_004364.5:c.394G>C MANE Select	NP_004355.2:p.Gly132Arg
NM_001285829.2:c.37G>C	NP_001272758.1:p.Gly13Arg
NM_001287435.2:c.352G>C	NP_001274364.1:p.Gly118Arg