Canonical Allele Identifier: CA512341068
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463981
ClinVar RCV Id: RCV000558219 RCV002264707
dbSNP Id: rs1555884827
gnomAD v4: 21-34792267-G-C
MyVariant Identifiers: chr21:g.36164564G>C (hg19) chr21:g.34792267G>C (hg38)
ERepo: CA512341068/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792267G>C , CM000683.2:g.34792267G>C GRCh38
NC_000021.8:g.36164564G>C , CM000683.1:g.36164564G>C GRCh37
NC_000021.7:g.35086434G>C NCBI36
NG_011402.2:g.1197445C>G , LRG_482:g.1197445C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1311C>G MANE Select ENSP00000501943.1:p.Thr437=
ENST00000300305.7:c.1311C>G ENSP00000300305.3:p.Thr437=
ENST00000344691.8:c.1230C>G ENSP00000340690.4:p.Thr410=
ENST00000399240.5:c.1038C>G ENSP00000382184.1:p.Thr346=
ENST00000437180.5:c.1311C>G ENSP00000409227.1:p.Thr437=
ENST00000482318.5:c.*901C>G ENSP00000477067.1:n.*901C>G
NM_001001890.2:c.1230C>G NP_001001890.1:p.Thr410=
NM_001754.4:c.1311C>G , LRG_482t1:c.1311C>G NP_001745.2:p.Thr437=
XM_005261068.3:c.1275C>G XP_005261125.1:p.Thr425=
XM_005261069.3:c.1119C>G XP_005261126.1:p.Thr373=
XM_011529766.1:c.1311C>G XP_011528068.1:p.Thr437=
XM_011529767.1:c.1272C>G XP_011528069.1:p.Thr424=
XM_011529768.1:c.1080C>G XP_011528070.1:p.Thr360=
XM_005261069.4:c.1119C>G XP_005261126.1:p.Thr373=
XM_011529766.2:c.1311C>G XP_011528068.1:p.Thr437=
XM_011529767.2:c.1272C>G XP_011528069.1:p.Thr424=
XM_011529768.2:c.1080C>G XP_011528070.1:p.Thr360=
XM_017028487.1:c.1158C>G XP_016883976.1:p.Thr386=
NM_001001890.3:c.1230C>G NP_001001890.1:p.Thr410=
NM_001754.5:c.1311C>G MANE Select NP_001745.2:p.Thr437=
Search 100 bp 5'
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