Canonical Allele Identifier: CA14727011
Gene: CEBPA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.33300221G>A
GRCh37 chr19:g.33791127G>A
gnomAD v2:
19:33791127 G / A
gnomAD v3:
19:33300221 G / A
gnomAD v4:
chr19-33300221-G-A
Joint Max Group AF 0.25038322 (AFR)
Genomes Max Group AF 0.24998086 (AFR)
Exomes Max Group AF 0.24346922 (AFR)
dbSNP:
12691
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33300221G>A , CM000681.2:g.33300221G>A GRCh38
NC_000019.9:g.33791127G>A , CM000681.1:g.33791127G>A GRCh37
NC_000019.8:g.38482967G>A NCBI36
NG_012022.1:g.7304C>T , LRG_456:g.7304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.*1117C>T MANE Select ENSP00000427514.1:n.*1117C>T
ENST00000498907.2:c.*1117C>T ENSP00000427514.1:n.*1117C>T
NM_001285829.1:c.*1117C>T NP_001272758.1:n.*1117C>T
NM_001287424.1:c.*1117C>T NP_001274353.1:n.*1117C>T
NM_001287435.1:c.*1117C>T NP_001274364.1:n.*1117C>T
NM_004364.4:c.*1117C>T NP_004355.2:n.*1117C>T
NM_001287424.2:c.*1117C>T NP_001274353.1:n.*1117C>T
NM_004364.5:c.*1117C>T MANE Select NP_004355.2:n.*1117C>T
NM_001285829.2:c.*1117C>T NP_001272758.1:n.*1117C>T
NM_001287435.2:c.*1117C>T NP_001274364.1:n.*1117C>T
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