Canonical Allele Identifier: CA10014270
Gene: RUNX1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34799351C>T
GRCh37 chr21:g.36171648C>T
Revel Score:
ENST00000344691 0.504
ENST00000300305 0.504
ENST00000437180 0.504
ENST00000325074 0.504
ENST00000399240 0.504
ENST00000431176 0.504
ENST00000399245 0.504
gnomAD v2:
21:36171648 C / T
gnomAD v3:
21:34799351 C / T
gnomAD v4:
chr21-34799351-C-T
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799351C>T , CM000683.2:g.34799351C>T GRCh38
NC_000021.8:g.36171648C>T , CM000683.1:g.36171648C>T GRCh37
NC_000021.7:g.35093518C>T NCBI36
NG_011402.2:g.1190361G>A , LRG_482:g.1190361G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.917G>A MANE Select ENSP00000501943.1:p.Arg306His
ENST00000300305.7:c.917G>A ENSP00000300305.3:p.Arg306His
ENST00000344691.8:c.836G>A ENSP00000340690.4:p.Arg279His
ENST00000399240.5:c.644G>A ENSP00000382184.1:p.Arg215His
ENST00000437180.5:c.917G>A ENSP00000409227.1:p.Arg306His
ENST00000482318.5:c.*507G>A ENSP00000477067.1:n.*507G>A
NM_001001890.2:c.836G>A NP_001001890.1:p.Arg279His
NM_001754.4:c.917G>A , LRG_482t1:c.917G>A NP_001745.2:p.Arg306His
XM_005261068.3:c.881G>A XP_005261125.1:p.Arg294His
XM_005261069.3:c.725G>A XP_005261126.1:p.Arg242His
XM_011529766.1:c.917G>A XP_011528068.1:p.Arg306His
XM_011529767.1:c.878G>A XP_011528069.1:p.Arg293His
XM_011529768.1:c.686G>A XP_011528070.1:p.Arg229His
XR_937576.1:n.1096G>A
XM_005261069.4:c.725G>A XP_005261126.1:p.Arg242His
XM_011529766.2:c.917G>A XP_011528068.1:p.Arg306His
XM_011529767.2:c.878G>A XP_011528069.1:p.Arg293His
XM_011529768.2:c.686G>A XP_011528070.1:p.Arg229His
XM_017028487.1:c.764G>A XP_016883976.1:p.Arg255His
XR_937576.2:n.1143G>A
NM_001001890.3:c.836G>A NP_001001890.1:p.Arg279His
NM_001754.5:c.917G>A MANE Select NP_001745.2:p.Arg306His
Search 100 bp 5'
Search 100 bp 3'