Canonical Allele Identifier: CA10014719
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561249
ClinVar RCV Id: RCV000680422
dbSNP Id: rs117776183
ExAC: 21:36421116 T / C
gnomAD v2: 21-36421116-T-C
gnomAD v3: 21-35048819-T-C
gnomAD v4: 21-35048819-T-C
MyVariant Identifiers: chr21:g.36421116T>C (hg19) chr21:g.35048819T>C (hg38)
ERepo: CA10014719/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35048819T>C , CM000683.2:g.35048819T>C GRCh38
NC_000021.8:g.36421116T>C , CM000683.1:g.36421116T>C GRCh37
NC_000021.7:g.35342986T>C NCBI36
NG_011402.2:g.940893A>G , LRG_482:g.940893A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.58+23A>G MANE Select ENSP00000501943.1:n.58+23A>G
ENST00000300305.7:c.58+23A>G ENSP00000300305.3:n.58+23A>G
ENST00000416754.1:c.58+23A>G ENSP00000405158.1:n.58+23A>G
ENST00000437180.5:c.58+23A>G ENSP00000409227.1:n.58+23A>G
ENST00000455571.5:c.58+23A>G ENSP00000388189.1:n.58+23A>G
ENST00000475045.6:c.58+23A>G ENSP00000477072.1:n.58+23A>G
ENST00000482318.5:c.58+23A>G ENSP00000477067.1:n.58+23A>G
NM_001754.4:c.58+23A>G , LRG_482t1:c.58+23A>G NP_001745.2:n.58+23A>G
XM_005261069.3:c.58+23A>G XP_005261126.1:n.58+23A>G
XM_011529766.1:c.58+23A>G XP_011528068.1:n.58+23A>G
XM_011529767.1:c.58+23A>G XP_011528069.1:n.58+23A>G
XM_011529768.1:c.58+23A>G XP_011528070.1:n.58+23A>G
XM_011529770.1:c.58+23A>G XP_011528072.1:n.58+23A>G
XR_937576.1:n.237+23A>G
XM_005261069.4:c.58+23A>G XP_005261126.1:n.58+23A>G
XM_011529766.2:c.58+23A>G XP_011528068.1:n.58+23A>G
XM_011529767.2:c.58+23A>G XP_011528069.1:n.58+23A>G
XM_011529768.2:c.58+23A>G XP_011528070.1:n.58+23A>G
XM_011529770.2:c.58+23A>G XP_011528072.1:n.58+23A>G
XR_937576.2:n.284+23A>G
NM_001754.5:c.58+23A>G MANE Select NP_001745.2:n.58+23A>G
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