Canonical Allele Identifier: CA10014733
Gene: RUNX1 HGNC NCBI
ClinGen Classification:
Classification Likely Benign
Condition hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
VCEP Myeloid Malignancy VCEP
ClinVar RCV:
RCV000528140
RCV002257796
RCV003915543
ClinVar Variation:
463989
dbSNP:
199929612
gnomAD v2:
21:36421179 T / C
gnomAD v3:
21:35048882 T / C
gnomAD v4:
chr21-35048882-T-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
MyVariant.info:
GRCh38 chr21:g.35048882T>C
GRCh37 chr21:g.36421179T>C
Revel Score:
ENST00000300305 0.293
ENST00000437180 0.293
ENST00000455571 0.293
ENST00000416754 0.293
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35048882T>C , CM000683.2:g.35048882T>C GRCh38
NC_000021.8:g.36421179T>C , CM000683.1:g.36421179T>C GRCh37
NC_000021.7:g.35343049T>C NCBI36
NG_011402.2:g.940830A>G , LRG_482:g.940830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.18A>G MANE Select ENSP00000501943.1:p.Ile6Met
ENST00000300305.7:c.18A>G ENSP00000300305.3:p.Ile6Met
ENST00000416754.1:c.18A>G ENSP00000405158.1:p.Ile6Met
ENST00000437180.5:c.18A>G ENSP00000409227.1:p.Ile6Met
ENST00000455571.5:c.18A>G ENSP00000388189.1:p.Ile6Met
ENST00000475045.6:c.18A>G ENSP00000477072.1:p.Ile6Met
ENST00000482318.5:c.18A>G ENSP00000477067.1:p.Ile6Met
NM_001754.4:c.18A>G , LRG_482t1:c.18A>G NP_001745.2:p.Ile6Met
XM_005261069.3:c.18A>G XP_005261126.1:p.Ile6Met
XM_011529766.1:c.18A>G XP_011528068.1:p.Ile6Met
XM_011529767.1:c.18A>G XP_011528069.1:p.Ile6Met
XM_011529768.1:c.18A>G XP_011528070.1:p.Ile6Met
XM_011529770.1:c.18A>G XP_011528072.1:p.Ile6Met
XR_937576.1:n.197A>G
XM_005261069.4:c.18A>G XP_005261126.1:p.Ile6Met
XM_011529766.2:c.18A>G XP_011528068.1:p.Ile6Met
XM_011529767.2:c.18A>G XP_011528069.1:p.Ile6Met
XM_011529768.2:c.18A>G XP_011528070.1:p.Ile6Met
XM_011529770.2:c.18A>G XP_011528072.1:p.Ile6Met
XR_937576.2:n.244A>G
NM_001754.5:c.18A>G MANE Select NP_001745.2:p.Ile6Met
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