Canonical Allele Identifier: CA14860295

Gene: RUNX1

Linked Data

• dbSNP Id: rs2268277
• gnomAD v2: 21-36182049-G-C
• gnomAD v3: 21-34809752-G-C
• gnomAD v4: 21-34809752-G-C
• MyVariant Identifiers: chr21:g.36182049G>C (hg19) ; chr21:g.34809752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34809752G>C , CM000683.2:g.34809752G>C	GRCh38
NC_000021.8:g.36182049G>C , CM000683.1:g.36182049G>C	GRCh37
NC_000021.7:g.35103919G>C	NCBI36
NG_011402.2:g.1179960C>G , LRG_482:g.1179960C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.806-10290C>G MANE Select	ENSP00000501943.1:n.806-10290C>G
ENST00000300305.7:c.806-10290C>G	ENSP00000300305.3:n.806-10290C>G
ENST00000344691.8:c.725-10290C>G	ENSP00000340690.4:n.725-10290C>G
ENST00000399240.5:c.533-10290C>G	ENSP00000382184.1:n.533-10290C>G
ENST00000437180.5:c.806-10290C>G	ENSP00000409227.1:n.806-10290C>G
ENST00000482318.5:c.*396-10290C>G	ENSP00000477067.1:n.*396-10290C>G
NM_001001890.2:c.725-10290C>G	NP_001001890.1:n.725-10290C>G
NM_001754.4:c.806-10290C>G , LRG_482t1:c.806-10290C>G	NP_001745.2:n.806-10290C>G
XM_005261068.3:c.770-10290C>G	XP_005261125.1:n.770-10290C>G
XM_005261069.3:c.614-10290C>G	XP_005261126.1:n.614-10290C>G
XM_011529766.1:c.806-10290C>G	XP_011528068.1:n.806-10290C>G
XM_011529767.1:c.767-10290C>G	XP_011528069.1:n.767-10290C>G
XM_011529768.1:c.575-10290C>G	XP_011528070.1:n.575-10290C>G
XR_937576.1:n.985-10290C>G
XM_005261069.4:c.614-10290C>G	XP_005261126.1:n.614-10290C>G
XM_011529766.2:c.806-10290C>G	XP_011528068.1:n.806-10290C>G
XM_011529767.2:c.767-10290C>G	XP_011528069.1:n.767-10290C>G
XM_011529768.2:c.575-10290C>G	XP_011528070.1:n.575-10290C>G
XM_017028487.1:c.653-10290C>G	XP_016883976.1:n.653-10290C>G
XR_937576.2:n.1032-10290C>G
NM_001001890.3:c.725-10290C>G	NP_001001890.1:n.725-10290C>G
NM_001754.5:c.806-10290C>G MANE Select	NP_001745.2:n.806-10290C>G