Canonical Allele Identifier: CA10014227
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258187
ClinVar RCV Id: RCV000252239 RCV001085797 RCV002264679
dbSNP Id: rs377305704
ExAC: 21:36164891 T / C
gnomAD v2: 21-36164891-T-C
gnomAD v3: 21-34792594-T-C
gnomAD v4: 21-34792594-T-C
MyVariant Identifiers: chr21:g.36164891T>C (hg19) chr21:g.34792594T>C (hg38)
ERepo: CA10014227/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792594T>C , CM000683.2:g.34792594T>C GRCh38
NC_000021.8:g.36164891T>C , CM000683.1:g.36164891T>C GRCh37
NC_000021.7:g.35086761T>C NCBI36
NG_011402.2:g.1197118A>G , LRG_482:g.1197118A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.984A>G MANE Select ENSP00000501943.1:p.Thr328=
ENST00000300305.7:c.984A>G ENSP00000300305.3:p.Thr328=
ENST00000344691.8:c.903A>G ENSP00000340690.4:p.Thr301=
ENST00000399240.5:c.711A>G ENSP00000382184.1:p.Thr237=
ENST00000437180.5:c.984A>G ENSP00000409227.1:p.Thr328=
ENST00000482318.5:c.*574A>G ENSP00000477067.1:n.*574A>G
NM_001001890.2:c.903A>G NP_001001890.1:p.Thr301=
NM_001754.4:c.984A>G , LRG_482t1:c.984A>G NP_001745.2:p.Thr328=
XM_005261068.3:c.948A>G XP_005261125.1:p.Thr316=
XM_005261069.3:c.792A>G XP_005261126.1:p.Thr264=
XM_011529766.1:c.984A>G XP_011528068.1:p.Thr328=
XM_011529767.1:c.945A>G XP_011528069.1:p.Thr315=
XM_011529768.1:c.753A>G XP_011528070.1:p.Thr251=
XR_937576.1:n.4588A>G
XM_005261069.4:c.792A>G XP_005261126.1:p.Thr264=
XM_011529766.2:c.984A>G XP_011528068.1:p.Thr328=
XM_011529767.2:c.945A>G XP_011528069.1:p.Thr315=
XM_011529768.2:c.753A>G XP_011528070.1:p.Thr251=
XM_017028487.1:c.831A>G XP_016883976.1:p.Thr277=
XR_937576.2:n.4635A>G
NM_001001890.3:c.903A>G NP_001001890.1:p.Thr301=
NM_001754.5:c.984A>G MANE Select NP_001745.2:p.Thr328=
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