Canonical Allele Identifier: CA410203363

Gene: RUNX1

Linked Data

• gnomAD v4: 21-34886848-A-C
• MyVariant Identifiers: chr21:g.36259145A>C (hg19) ; chr21:g.34886848A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886848A>C , CM000683.2:g.34886848A>C	GRCh38
NC_000021.8:g.36259145A>C , CM000683.1:g.36259145A>C	GRCh37
NC_000021.7:g.35181015A>C	NCBI36
NG_011402.2:g.1102864T>G , LRG_482:g.1102864T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.346T>G MANE Select	ENSP00000501943.1:p.Phe116Val
ENST00000300305.7:c.346T>G	ENSP00000300305.3:p.Phe116Val
ENST00000344691.8:c.265T>G	ENSP00000340690.4:p.Phe89Val
ENST00000358356.9:c.265T>G	ENSP00000351123.5:p.Phe89Val
ENST00000399237.6:c.310T>G	ENSP00000382182.2:p.Phe104Val
ENST00000399240.5:c.265T>G	ENSP00000382184.1:p.Phe89Val
ENST00000437180.5:c.346T>G	ENSP00000409227.1:p.Phe116Val
ENST00000455571.5:c.307T>G	ENSP00000388189.1:p.Phe103Val
ENST00000482318.5:c.59-6135T>G	ENSP00000477067.1:n.59-6135T>G
NM_001001890.2:c.265T>G	NP_001001890.1:p.Phe89Val
NM_001122607.1:c.265T>G	NP_001116079.1:p.Phe89Val
NM_001754.4:c.346T>G , LRG_482t1:c.346T>G	NP_001745.2:p.Phe116Val
XM_005261068.3:c.310T>G	XP_005261125.1:p.Phe104Val
XM_005261069.3:c.346T>G	XP_005261126.1:p.Phe116Val
XM_011529766.1:c.346T>G	XP_011528068.1:p.Phe116Val
XM_011529767.1:c.307T>G	XP_011528069.1:p.Phe103Val
XM_011529768.1:c.307T>G	XP_011528070.1:p.Phe103Val
XM_011529770.1:c.346T>G	XP_011528072.1:p.Phe116Val
XR_937576.1:n.525T>G
XM_005261069.4:c.346T>G	XP_005261126.1:p.Phe116Val
XM_011529766.2:c.346T>G	XP_011528068.1:p.Phe116Val
XM_011529767.2:c.307T>G	XP_011528069.1:p.Phe103Val
XM_011529768.2:c.307T>G	XP_011528070.1:p.Phe103Val
XM_011529770.2:c.346T>G	XP_011528072.1:p.Phe116Val
XM_017028487.1:c.193T>G	XP_016883976.1:p.Phe65Val
XR_937576.2:n.572T>G
NM_001001890.3:c.265T>G	NP_001001890.1:p.Phe89Val
NM_001122607.2:c.265T>G	NP_001116079.1:p.Phe89Val
NM_001754.5:c.346T>G MANE Select	NP_001745.2:p.Phe116Val