Canonical Allele Identifier: CA512341295
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430658
ClinVar RCV Id: RCV001931549
dbSNP Id: rs766678402
gnomAD v2: 21-36164756-C-T
gnomAD v4: 21-34792459-C-T
MyVariant Identifiers: chr21:g.36164756C>T (hg19) chr21:g.34792459C>T (hg38)
ERepo: CA512341295/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792459C>T , CM000683.2:g.34792459C>T GRCh38
NC_000021.8:g.36164756C>T , CM000683.1:g.36164756C>T GRCh37
NC_000021.7:g.35086626C>T NCBI36
NG_011402.2:g.1197253G>A , LRG_482:g.1197253G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1119G>A MANE Select ENSP00000501943.1:p.Ser373=
ENST00000300305.7:c.1119G>A ENSP00000300305.3:p.Ser373=
ENST00000344691.8:c.1038G>A ENSP00000340690.4:p.Ser346=
ENST00000399240.5:c.846G>A ENSP00000382184.1:p.Ser282=
ENST00000437180.5:c.1119G>A ENSP00000409227.1:p.Ser373=
ENST00000482318.5:c.*709G>A ENSP00000477067.1:n.*709G>A
NM_001001890.2:c.1038G>A NP_001001890.1:p.Ser346=
NM_001754.4:c.1119G>A , LRG_482t1:c.1119G>A NP_001745.2:p.Ser373=
XM_005261068.3:c.1083G>A XP_005261125.1:p.Ser361=
XM_005261069.3:c.927G>A XP_005261126.1:p.Ser309=
XM_011529766.1:c.1119G>A XP_011528068.1:p.Ser373=
XM_011529767.1:c.1080G>A XP_011528069.1:p.Ser360=
XM_011529768.1:c.888G>A XP_011528070.1:p.Ser296=
XM_005261069.4:c.927G>A XP_005261126.1:p.Ser309=
XM_011529766.2:c.1119G>A XP_011528068.1:p.Ser373=
XM_011529767.2:c.1080G>A XP_011528069.1:p.Ser360=
XM_011529768.2:c.888G>A XP_011528070.1:p.Ser296=
XM_017028487.1:c.966G>A XP_016883976.1:p.Ser322=
NM_001001890.3:c.1038G>A NP_001001890.1:p.Ser346=
NM_001754.5:c.1119G>A MANE Select NP_001745.2:p.Ser373=
Search 100 bp 5'
Search 100 bp 3'