Canonical Allele Identifier: CA405275056

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 1949528
• ClinVar RCV Id: RCV002659482
• dbSNP Id: rs1309134754
• gnomAD v3: 19-33302026-C-A
• gnomAD v4: 19-33302026-C-A
• MyVariant Identifiers: chr19:g.33792932C>A (hg19) ; chr19:g.33302026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302026C>A , CM000681.2:g.33302026C>A	GRCh38
NC_000019.9:g.33792932C>A , CM000681.1:g.33792932C>A	GRCh37
NC_000019.8:g.38484772C>A	NCBI36
NG_012022.1:g.5499G>T , LRG_456:g.5499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.389G>T MANE Select	ENSP00000427514.1:p.Gly130Val
ENST00000498907.2:c.389G>T	ENSP00000427514.1:p.Gly130Val
NM_001285829.1:c.32G>T	NP_001272758.1:p.Gly11Val
NM_001287424.1:c.494G>T	NP_001274353.1:p.Gly165Val
NM_001287435.1:c.347G>T	NP_001274364.1:p.Gly116Val
NM_004364.4:c.389G>T	NP_004355.2:p.Gly130Val
NM_001287424.2:c.494G>T	NP_001274353.1:p.Gly165Val
NM_004364.5:c.389G>T MANE Select	NP_004355.2:p.Gly130Val
NM_001285829.2:c.32G>T	NP_001272758.1:p.Gly11Val
NM_001287435.2:c.347G>T	NP_001274364.1:p.Gly116Val