Canonical Allele Identifier: CA410203354

Gene: RUNX1

Linked Data

• dbSNP Id: rs2146407756
• gnomAD v4: 21-34886846-G-C
• MyVariant Identifiers: chr21:g.36259143G>C (hg19) ; chr21:g.34886846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886846G>C , CM000683.2:g.34886846G>C	GRCh38
NC_000021.8:g.36259143G>C , CM000683.1:g.36259143G>C	GRCh37
NC_000021.7:g.35181013G>C	NCBI36
NG_011402.2:g.1102866C>G , LRG_482:g.1102866C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.348C>G MANE Select	ENSP00000501943.1:p.Phe116Leu
ENST00000300305.7:c.348C>G	ENSP00000300305.3:p.Phe116Leu
ENST00000344691.8:c.267C>G	ENSP00000340690.4:p.Phe89Leu
ENST00000358356.9:c.267C>G	ENSP00000351123.5:p.Phe89Leu
ENST00000399237.6:c.312C>G	ENSP00000382182.2:p.Phe104Leu
ENST00000399240.5:c.267C>G	ENSP00000382184.1:p.Phe89Leu
ENST00000437180.5:c.348C>G	ENSP00000409227.1:p.Phe116Leu
ENST00000455571.5:c.309C>G	ENSP00000388189.1:p.Phe103Leu
ENST00000482318.5:c.59-6133C>G	ENSP00000477067.1:n.59-6133C>G
NM_001001890.2:c.267C>G	NP_001001890.1:p.Phe89Leu
NM_001122607.1:c.267C>G	NP_001116079.1:p.Phe89Leu
NM_001754.4:c.348C>G , LRG_482t1:c.348C>G	NP_001745.2:p.Phe116Leu
XM_005261068.3:c.312C>G	XP_005261125.1:p.Phe104Leu
XM_005261069.3:c.348C>G	XP_005261126.1:p.Phe116Leu
XM_011529766.1:c.348C>G	XP_011528068.1:p.Phe116Leu
XM_011529767.1:c.309C>G	XP_011528069.1:p.Phe103Leu
XM_011529768.1:c.309C>G	XP_011528070.1:p.Phe103Leu
XM_011529770.1:c.348C>G	XP_011528072.1:p.Phe116Leu
XR_937576.1:n.527C>G
XM_005261069.4:c.348C>G	XP_005261126.1:p.Phe116Leu
XM_011529766.2:c.348C>G	XP_011528068.1:p.Phe116Leu
XM_011529767.2:c.309C>G	XP_011528069.1:p.Phe103Leu
XM_011529768.2:c.309C>G	XP_011528070.1:p.Phe103Leu
XM_011529770.2:c.348C>G	XP_011528072.1:p.Phe116Leu
XM_017028487.1:c.195C>G	XP_016883976.1:p.Phe65Leu
XR_937576.2:n.574C>G
NM_001001890.3:c.267C>G	NP_001001890.1:p.Phe89Leu
NM_001122607.2:c.267C>G	NP_001116079.1:p.Phe89Leu
NM_001754.5:c.348C>G MANE Select	NP_001745.2:p.Phe116Leu