Canonical Allele Identifier: CA10653552

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 339814
• ClinVar RCV Id: RCV000306355
• dbSNP Id: rs886057033
• gnomAD v2: 21-36161294-G-C
• gnomAD v3: 21-34788997-G-C
• gnomAD v4: 21-34788997-G-C
• MyVariant Identifiers: chr21:g.36161294G>C (hg19) ; chr21:g.34788997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34788997G>C , CM000683.2:g.34788997G>C	GRCh38
NC_000021.8:g.36161294G>C , CM000683.1:g.36161294G>C	GRCh37
NC_000021.7:g.35083164G>C	NCBI36
NG_011402.2:g.1200715C>G , LRG_482:g.1200715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.*3138C>G MANE Select	ENSP00000501943.1:n.*3138C>G
ENST00000300305.7:c.*3138C>G	ENSP00000300305.3:n.*3138C>G
ENST00000344691.8:c.*3138C>G	ENSP00000340690.4:n.*3138C>G
ENST00000437180.5:c.*3138C>G	ENSP00000409227.1:n.*3138C>G
NM_001001890.2:c.*3138C>G	NP_001001890.1:n.*3138C>G
NM_001754.4:c.*3138C>G , LRG_482t1:c.*3138C>G	NP_001745.2:n.*3138C>G
XM_005261068.3:c.*3138C>G	XP_005261125.1:n.*3138C>G
XM_005261069.3:c.*3138C>G	XP_005261126.1:n.*3138C>G
XM_011529766.1:c.*3138C>G	XP_011528068.1:n.*3138C>G
XM_011529767.1:c.*3138C>G	XP_011528069.1:n.*3138C>G
XM_011529768.1:c.*3138C>G	XP_011528070.1:n.*3138C>G
XM_005261069.4:c.*3138C>G	XP_005261126.1:n.*3138C>G
XM_011529766.2:c.*3138C>G	XP_011528068.1:n.*3138C>G
XM_011529767.2:c.*3138C>G	XP_011528069.1:n.*3138C>G
XM_011529768.2:c.*3138C>G	XP_011528070.1:n.*3138C>G
XM_017028487.1:c.*3138C>G	XP_016883976.1:n.*3138C>G
NM_001001890.3:c.*3138C>G	NP_001001890.1:n.*3138C>G
NM_001754.5:c.*3138C>G MANE Select	NP_001745.2:n.*3138C>G