Canonical Allele Identifier: CA15985007
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2834643
gnomAD v2: 21-36186396-A-G
gnomAD v3: 21-34814099-A-G
gnomAD v4: 21-34814099-A-G
MyVariant Identifiers: chr21:g.36186396A>G (hg19) chr21:g.34814099A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34814099A>G , CM000683.2:g.34814099A>G GRCh38
NC_000021.8:g.36186396A>G , CM000683.1:g.36186396A>G GRCh37
NC_000021.7:g.35108266A>G NCBI36
NG_011402.2:g.1175613T>C , LRG_482:g.1175613T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675419.1:c.806-14637T>C MANE Select ENSP00000501943.1:n.806-14637T>C
ENST00000300305.7:c.806-14637T>C ENSP00000300305.3:n.806-14637T>C
ENST00000344691.8:c.725-14637T>C ENSP00000340690.4:n.725-14637T>C
ENST00000399240.5:c.533-14637T>C ENSP00000382184.1:n.533-14637T>C
ENST00000437180.5:c.806-14637T>C ENSP00000409227.1:n.806-14637T>C
ENST00000482318.5:c.*396-14637T>C ENSP00000477067.1:n.*396-14637T>C
NM_001001890.2:c.725-14637T>C NP_001001890.1:n.725-14637T>C
NM_001754.4:c.806-14637T>C , LRG_482t1:c.806-14637T>C NP_001745.2:n.806-14637T>C
XM_005261068.3:c.770-14637T>C XP_005261125.1:n.770-14637T>C
XM_005261069.3:c.614-14637T>C XP_005261126.1:n.614-14637T>C
XM_011529766.1:c.806-14637T>C XP_011528068.1:n.806-14637T>C
XM_011529767.1:c.767-14637T>C XP_011528069.1:n.767-14637T>C
XM_011529768.1:c.575-14637T>C XP_011528070.1:n.575-14637T>C
XR_937576.1:n.985-14637T>C
XM_005261069.4:c.614-14637T>C XP_005261126.1:n.614-14637T>C
XM_011529766.2:c.806-14637T>C XP_011528068.1:n.806-14637T>C
XM_011529767.2:c.767-14637T>C XP_011528069.1:n.767-14637T>C
XM_011529768.2:c.575-14637T>C XP_011528070.1:n.575-14637T>C
XM_017028487.1:c.653-14637T>C XP_016883976.1:n.653-14637T>C
XR_937576.2:n.1032-14637T>C
NM_001001890.3:c.725-14637T>C NP_001001890.1:n.725-14637T>C
NM_001754.5:c.806-14637T>C MANE Select NP_001745.2:n.806-14637T>C
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