Canonical Allele Identifier: CA10014193
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532673
ClinVar RCV Id: RCV000639533 RCV002264716 RCV003317312
dbSNP Id: rs762292084
ExAC: 21:36164685 T / C
gnomAD v2: 21-36164685-T-C
gnomAD v3: 21-34792388-T-C
gnomAD v4: 21-34792388-T-C
COSMIC: COSM26028
MyVariant Identifiers: chr21:g.36164685T>C (hg19) chr21:g.34792388T>C (hg38)
ERepo: CA10014193/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792388T>C , CM000683.2:g.34792388T>C GRCh38
NC_000021.8:g.36164685T>C , CM000683.1:g.36164685T>C GRCh37
NC_000021.7:g.35086555T>C NCBI36
NG_011402.2:g.1197324A>G , LRG_482:g.1197324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1190A>G MANE Select ENSP00000501943.1:p.Gln397Arg
ENST00000300305.7:c.1190A>G ENSP00000300305.3:p.Gln397Arg
ENST00000344691.8:c.1109A>G ENSP00000340690.4:p.Gln370Arg
ENST00000399240.5:c.917A>G ENSP00000382184.1:p.Gln306Arg
ENST00000437180.5:c.1190A>G ENSP00000409227.1:p.Gln397Arg
ENST00000482318.5:c.*780A>G ENSP00000477067.1:n.*780A>G
NM_001001890.2:c.1109A>G NP_001001890.1:p.Gln370Arg
NM_001754.4:c.1190A>G , LRG_482t1:c.1190A>G NP_001745.2:p.Gln397Arg
XM_005261068.3:c.1154A>G XP_005261125.1:p.Gln385Arg
XM_005261069.3:c.998A>G XP_005261126.1:p.Gln333Arg
XM_011529766.1:c.1190A>G XP_011528068.1:p.Gln397Arg
XM_011529767.1:c.1151A>G XP_011528069.1:p.Gln384Arg
XM_011529768.1:c.959A>G XP_011528070.1:p.Gln320Arg
XM_005261069.4:c.998A>G XP_005261126.1:p.Gln333Arg
XM_011529766.2:c.1190A>G XP_011528068.1:p.Gln397Arg
XM_011529767.2:c.1151A>G XP_011528069.1:p.Gln384Arg
XM_011529768.2:c.959A>G XP_011528070.1:p.Gln320Arg
XM_017028487.1:c.1037A>G XP_016883976.1:p.Gln346Arg
NM_001001890.3:c.1109A>G NP_001001890.1:p.Gln370Arg
NM_001754.5:c.1190A>G MANE Select NP_001745.2:p.Gln397Arg
Search 100 bp 5'
Search 100 bp 3'