Canonical Allele Identifier: CA10014380
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580214
ClinVar RCV Id: RCV000703688 RCV003465627
dbSNP Id: rs754894156
ExAC: 21:36206841 C / T
gnomAD v2: 21-36206841-C-T
gnomAD v4: 21-34834544-C-T
MyVariant Identifiers: chr21:g.36206841C>T (hg19) chr21:g.34834544C>T (hg38)
ERepo: CA10014380/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834544C>T , CM000683.2:g.34834544C>T GRCh38
NC_000021.8:g.36206841C>T , CM000683.1:g.36206841C>T GRCh37
NC_000021.7:g.35128711C>T NCBI36
NG_011402.2:g.1155168G>A , LRG_482:g.1155168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.671G>A MANE Select ENSP00000501943.1:p.Arg224Gln
ENST00000300305.7:c.671G>A ENSP00000300305.3:p.Arg224Gln
ENST00000344691.8:c.590G>A ENSP00000340690.4:p.Arg197Gln
ENST00000358356.9:c.590G>A ENSP00000351123.5:p.Arg197Gln
ENST00000399237.6:c.635G>A ENSP00000382182.2:p.Arg212Gln
ENST00000399240.5:c.532+24930G>A ENSP00000382184.1:n.532+24930G>A
ENST00000437180.5:c.671G>A ENSP00000409227.1:p.Arg224Gln
ENST00000469087.1:n.207G>A
ENST00000482318.5:c.*261G>A ENSP00000477067.1:n.*261G>A
NM_001001890.2:c.590G>A NP_001001890.1:p.Arg197Gln
NM_001122607.1:c.590G>A NP_001116079.1:p.Arg197Gln
NM_001754.4:c.671G>A , LRG_482t1:c.671G>A NP_001745.2:p.Arg224Gln
XM_005261068.3:c.635G>A XP_005261125.1:p.Arg212Gln
XM_005261069.3:c.613+24930G>A XP_005261126.1:n.613+24930G>A
XM_011529766.1:c.671G>A XP_011528068.1:p.Arg224Gln
XM_011529767.1:c.632G>A XP_011528069.1:p.Arg211Gln
XM_011529768.1:c.574+24930G>A XP_011528070.1:n.574+24930G>A
XM_011529770.1:c.671G>A XP_011528072.1:p.Arg224Gln
XR_937576.1:n.850G>A
XM_005261069.4:c.613+24930G>A XP_005261126.1:n.613+24930G>A
XM_011529766.2:c.671G>A XP_011528068.1:p.Arg224Gln
XM_011529767.2:c.632G>A XP_011528069.1:p.Arg211Gln
XM_011529768.2:c.574+24930G>A XP_011528070.1:n.574+24930G>A
XM_011529770.2:c.671G>A XP_011528072.1:p.Arg224Gln
XM_017028487.1:c.518G>A XP_016883976.1:p.Arg173Gln
XR_937576.2:n.897G>A
NM_001001890.3:c.590G>A NP_001001890.1:p.Arg197Gln
NM_001122607.2:c.590G>A NP_001116079.1:p.Arg197Gln
NM_001754.5:c.671G>A MANE Select NP_001745.2:p.Arg224Gln
Search 100 bp 5'
Search 100 bp 3'