Canonical Allele Identifier: CA10650402

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 339799
• ClinVar RCV Id: RCV000289224 ; RCV001195682
• dbSNP Id: rs189557277
• gnomAD v2: 21-36160455-C-T
• gnomAD v3: 21-34788158-C-T
• gnomAD v4: 21-34788158-C-T
• MyVariant Identifiers: chr21:g.36160455C>T (hg19) ; chr21:g.34788158C>T (hg38)
• ERepo: CA10650402/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34788158C>T , CM000683.2:g.34788158C>T	GRCh38
NC_000021.8:g.36160455C>T , CM000683.1:g.36160455C>T	GRCh37
NC_000021.7:g.35082325C>T	NCBI36
NG_011402.2:g.1201554G>A , LRG_482:g.1201554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.*3977G>A MANE Select	ENSP00000501943.1:n.*3977G>A
ENST00000300305.7:c.*3977G>A	ENSP00000300305.3:n.*3977G>A
ENST00000344691.8:c.*3977G>A	ENSP00000340690.4:n.*3977G>A
ENST00000437180.5:c.*3977G>A	ENSP00000409227.1:n.*3977G>A
NM_001001890.2:c.*3977G>A	NP_001001890.1:n.*3977G>A
NM_001754.4:c.*3977G>A , LRG_482t1:c.*3977G>A	NP_001745.2:n.*3977G>A
XM_005261068.3:c.*3977G>A	XP_005261125.1:n.*3977G>A
XM_005261069.3:c.*3977G>A	XP_005261126.1:n.*3977G>A
XM_011529766.1:c.*3977G>A	XP_011528068.1:n.*3977G>A
XM_011529767.1:c.*3977G>A	XP_011528069.1:n.*3977G>A
XM_011529768.1:c.*3977G>A	XP_011528070.1:n.*3977G>A
XM_005261069.4:c.*3977G>A	XP_005261126.1:n.*3977G>A
XM_011529766.2:c.*3977G>A	XP_011528068.1:n.*3977G>A
XM_011529767.2:c.*3977G>A	XP_011528069.1:n.*3977G>A
XM_011529768.2:c.*3977G>A	XP_011528070.1:n.*3977G>A
XM_017028487.1:c.*3977G>A	XP_016883976.1:n.*3977G>A
NM_001001890.3:c.*3977G>A	NP_001001890.1:n.*3977G>A
NM_001754.5:c.*3977G>A MANE Select	NP_001745.2:n.*3977G>A