Canonical Allele Identifier: CA10653545

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 339797
• ClinVar RCV Id: RCV000329406 ; RCV001653649
• dbSNP Id: rs78335539
• gnomAD v2: 21-36160400-A-G
• gnomAD v3: 21-34788103-A-G
• gnomAD v4: 21-34788103-A-G
• MyVariant Identifiers: chr21:g.36160400A>G (hg19) ; chr21:g.34788103A>G (hg38)
• ERepo: CA10653545/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34788103A>G , CM000683.2:g.34788103A>G	GRCh38
NC_000021.8:g.36160400A>G , CM000683.1:g.36160400A>G	GRCh37
NC_000021.7:g.35082270A>G	NCBI36
NG_011402.2:g.1201609T>C , LRG_482:g.1201609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.*4032T>C MANE Select	ENSP00000501943.1:n.*4032T>C
ENST00000300305.7:c.*4032T>C	ENSP00000300305.3:n.*4032T>C
ENST00000344691.8:c.*4032T>C	ENSP00000340690.4:n.*4032T>C
ENST00000437180.5:c.*4032T>C	ENSP00000409227.1:n.*4032T>C
NM_001001890.2:c.*4032T>C	NP_001001890.1:n.*4032T>C
NM_001754.4:c.*4032T>C , LRG_482t1:c.*4032T>C	NP_001745.2:n.*4032T>C
XM_005261068.3:c.*4032T>C	XP_005261125.1:n.*4032T>C
XM_005261069.3:c.*4032T>C	XP_005261126.1:n.*4032T>C
XM_011529766.1:c.*4032T>C	XP_011528068.1:n.*4032T>C
XM_011529767.1:c.*4032T>C	XP_011528069.1:n.*4032T>C
XM_011529768.1:c.*4032T>C	XP_011528070.1:n.*4032T>C
XM_005261069.4:c.*4032T>C	XP_005261126.1:n.*4032T>C
XM_011529766.2:c.*4032T>C	XP_011528068.1:n.*4032T>C
XM_011529767.2:c.*4032T>C	XP_011528069.1:n.*4032T>C
XM_011529768.2:c.*4032T>C	XP_011528070.1:n.*4032T>C
XM_017028487.1:c.*4032T>C	XP_016883976.1:n.*4032T>C
NM_001001890.3:c.*4032T>C	NP_001001890.1:n.*4032T>C
NM_001754.5:c.*4032T>C MANE Select	NP_001745.2:n.*4032T>C