Canonical Allele Identifier: CA405275557

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 2171442
• ClinVar RCV Id: RCV003095767
• dbSNP Id: rs777090929
• gnomAD v3: 19-33302255-C-G
• gnomAD v4: 19-33302255-C-G
• MyVariant Identifiers: chr19:g.33793161C>G (hg19) ; chr19:g.33302255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302255C>G , CM000681.2:g.33302255C>G	GRCh38
NC_000019.9:g.33793161C>G , CM000681.1:g.33793161C>G	GRCh37
NC_000019.8:g.38485001C>G	NCBI36
NG_012022.1:g.5270G>C , LRG_456:g.5270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.160G>C MANE Select	ENSP00000427514.1:p.Gly54Arg
ENST00000498907.2:c.160G>C	ENSP00000427514.1:p.Gly54Arg
NM_001285829.1:c.-198G>C	NP_001272758.1:n.-198G>C
NM_001287424.1:c.265G>C	NP_001274353.1:p.Gly89Arg
NM_001287435.1:c.118G>C	NP_001274364.1:p.Gly40Arg
NM_004364.4:c.160G>C	NP_004355.2:p.Gly54Arg
NM_001287424.2:c.265G>C	NP_001274353.1:p.Gly89Arg
NM_004364.5:c.160G>C MANE Select	NP_004355.2:p.Gly54Arg
NM_001285829.2:c.-198G>C	NP_001272758.1:n.-198G>C
NM_001287435.2:c.118G>C	NP_001274364.1:p.Gly40Arg