Canonical Allele Identifier: CA10014724
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409814
ClinVar RCV Id: RCV000477106 RCV001821277 RCV003470456 RCV003223640
dbSNP Id: rs759078185
ExAC: 21:36421141 C / T
gnomAD v2: 21-36421141-C-T
gnomAD v3: 21-35048844-C-T
gnomAD v4: 21-35048844-C-T
COSMIC: COSM4385202
MyVariant Identifiers: chr21:g.36421141C>T (hg19) chr21:g.35048844C>T (hg38)
ERepo: CA10014724/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35048844C>T , CM000683.2:g.35048844C>T GRCh38
NC_000021.8:g.36421141C>T , CM000683.1:g.36421141C>T GRCh37
NC_000021.7:g.35343011C>T NCBI36
NG_011402.2:g.940868G>A , LRG_482:g.940868G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.56G>A MANE Select ENSP00000501943.1:p.Arg19Lys
ENST00000300305.7:c.56G>A ENSP00000300305.3:p.Arg19Lys
ENST00000416754.1:c.56G>A ENSP00000405158.1:p.Arg19Lys
ENST00000437180.5:c.56G>A ENSP00000409227.1:p.Arg19Lys
ENST00000455571.5:c.56G>A ENSP00000388189.1:p.Arg19Lys
ENST00000475045.6:c.56G>A ENSP00000477072.1:p.Arg19Lys
ENST00000482318.5:c.56G>A ENSP00000477067.1:p.Arg19Lys
NM_001754.4:c.56G>A , LRG_482t1:c.56G>A NP_001745.2:p.Arg19Lys
XM_005261069.3:c.56G>A XP_005261126.1:p.Arg19Lys
XM_011529766.1:c.56G>A XP_011528068.1:p.Arg19Lys
XM_011529767.1:c.56G>A XP_011528069.1:p.Arg19Lys
XM_011529768.1:c.56G>A XP_011528070.1:p.Arg19Lys
XM_011529770.1:c.56G>A XP_011528072.1:p.Arg19Lys
XR_937576.1:n.235G>A
XM_005261069.4:c.56G>A XP_005261126.1:p.Arg19Lys
XM_011529766.2:c.56G>A XP_011528068.1:p.Arg19Lys
XM_011529767.2:c.56G>A XP_011528069.1:p.Arg19Lys
XM_011529768.2:c.56G>A XP_011528070.1:p.Arg19Lys
XM_011529770.2:c.56G>A XP_011528072.1:p.Arg19Lys
XR_937576.2:n.282G>A
NM_001754.5:c.56G>A MANE Select NP_001745.2:p.Arg19Lys
Search 100 bp 5'
Search 100 bp 3'