Canonical Allele Identifier: CA1022028494

Gene: RUNX1

Linked Data

• dbSNP Id: rs9976946
• gnomAD v3: 21-34835765-C-G
• gnomAD v4: 21-34835765-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34835765C>G , CM000683.2:g.34835765C>G	GRCh38
NC_000021.8:g.36208062C>G , CM000683.1:g.36208062C>G	GRCh37
NC_000021.7:g.35129932C>G	NCBI36
NG_011402.2:g.1153947G>C , LRG_482:g.1153947G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.614-1164G>C MANE Select	ENSP00000501943.1:n.614-1164G>C
ENST00000300305.7:c.614-1164G>C	ENSP00000300305.3:n.614-1164G>C
ENST00000344691.8:c.533-1164G>C	ENSP00000340690.4:n.533-1164G>C
ENST00000358356.9:c.533-1164G>C	ENSP00000351123.5:n.533-1164G>C
ENST00000399237.6:c.578-1164G>C	ENSP00000382182.2:n.578-1164G>C
ENST00000399240.5:c.532+23709G>C	ENSP00000382184.1:n.532+23709G>C
ENST00000437180.5:c.614-1164G>C	ENSP00000409227.1:n.614-1164G>C
ENST00000469087.1:n.150-1164G>C
ENST00000482318.5:c.*204-1164G>C	ENSP00000477067.1:n.*204-1164G>C
NM_001001890.2:c.533-1164G>C	NP_001001890.1:n.533-1164G>C
NM_001122607.1:c.533-1164G>C	NP_001116079.1:n.533-1164G>C
NM_001754.4:c.614-1164G>C , LRG_482t1:c.614-1164G>C	NP_001745.2:n.614-1164G>C
XM_005261068.3:c.578-1164G>C	XP_005261125.1:n.578-1164G>C
XM_005261069.3:c.613+23709G>C	XP_005261126.1:n.613+23709G>C
XM_011529766.1:c.614-1164G>C	XP_011528068.1:n.614-1164G>C
XM_011529767.1:c.575-1164G>C	XP_011528069.1:n.575-1164G>C
XM_011529768.1:c.574+23709G>C	XP_011528070.1:n.574+23709G>C
XM_011529770.1:c.614-1164G>C	XP_011528072.1:n.614-1164G>C
XR_937576.1:n.793-1164G>C
XM_005261069.4:c.613+23709G>C	XP_005261126.1:n.613+23709G>C
XM_011529766.2:c.614-1164G>C	XP_011528068.1:n.614-1164G>C
XM_011529767.2:c.575-1164G>C	XP_011528069.1:n.575-1164G>C
XM_011529768.2:c.574+23709G>C	XP_011528070.1:n.574+23709G>C
XM_011529770.2:c.614-1164G>C	XP_011528072.1:n.614-1164G>C
XM_017028487.1:c.461-1164G>C	XP_016883976.1:n.461-1164G>C
XR_937576.2:n.840-1164G>C
NM_001001890.3:c.533-1164G>C	NP_001001890.1:n.533-1164G>C
NM_001122607.2:c.533-1164G>C	NP_001116079.1:n.533-1164G>C
NM_001754.5:c.614-1164G>C MANE Select	NP_001745.2:n.614-1164G>C