Canonical Allele Identifier: CA16616262
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 408755
ClinVar RCV Id: RCV000473665 RCV001821276 RCV002275032 RCV002525573
dbSNP Id: rs919904139
gnomAD v2: 19-33792933-C-T
gnomAD v3: 19-33302027-C-T
gnomAD v4: 19-33302027-C-T
MyVariant Identifiers: chr19:g.33792933C>T (hg19) chr19:g.33302027C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302027C>T , CM000681.2:g.33302027C>T GRCh38
NC_000019.9:g.33792933C>T , CM000681.1:g.33792933C>T GRCh37
NC_000019.8:g.38484773C>T NCBI36
NG_012022.1:g.5498G>A , LRG_456:g.5498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.388G>A MANE Select ENSP00000427514.1:p.Gly130Ser
ENST00000498907.2:c.388G>A ENSP00000427514.1:p.Gly130Ser
NM_001285829.1:c.31G>A NP_001272758.1:p.Gly11Ser
NM_001287424.1:c.493G>A NP_001274353.1:p.Gly165Ser
NM_001287435.1:c.346G>A NP_001274364.1:p.Gly116Ser
NM_004364.4:c.388G>A NP_004355.2:p.Gly130Ser
NM_001287424.2:c.493G>A NP_001274353.1:p.Gly165Ser
NM_004364.5:c.388G>A MANE Select NP_004355.2:p.Gly130Ser
NM_001285829.2:c.31G>A NP_001272758.1:p.Gly11Ser
NM_001287435.2:c.346G>A NP_001274364.1:p.Gly116Ser
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