Canonical Allele Identifier: CA10644605
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339794
ClinVar RCV Id: RCV000321119 RCV002264680
dbSNP Id: rs761390141
gnomAD v2: 21-36160244-C-G
gnomAD v3: 21-34787947-C-G
gnomAD v4: 21-34787947-C-G
MyVariant Identifiers: chr21:g.36160244C>G (hg19) chr21:g.34787947C>G (hg38)
ERepo: CA10644605/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34787947C>G , CM000683.2:g.34787947C>G GRCh38
NC_000021.8:g.36160244C>G , CM000683.1:g.36160244C>G GRCh37
NC_000021.7:g.35082114C>G NCBI36
NG_011402.2:g.1201765G>C , LRG_482:g.1201765G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.*4188G>C MANE Select ENSP00000501943.1:n.*4188G>C
ENST00000300305.7:c.*4188G>C ENSP00000300305.3:n.*4188G>C
ENST00000344691.8:c.*4188G>C ENSP00000340690.4:n.*4188G>C
ENST00000437180.5:c.*4188G>C ENSP00000409227.1:n.*4188G>C
NM_001001890.2:c.*4188G>C NP_001001890.1:n.*4188G>C
NM_001754.4:c.*4188G>C , LRG_482t1:c.*4188G>C NP_001745.2:n.*4188G>C
XM_005261068.3:c.*4188G>C XP_005261125.1:n.*4188G>C
XM_005261069.3:c.*4188G>C XP_005261126.1:n.*4188G>C
XM_011529766.1:c.*4188G>C XP_011528068.1:n.*4188G>C
XM_011529767.1:c.*4188G>C XP_011528069.1:n.*4188G>C
XM_011529768.1:c.*4188G>C XP_011528070.1:n.*4188G>C
XM_005261069.4:c.*4188G>C XP_005261126.1:n.*4188G>C
XM_011529766.2:c.*4188G>C XP_011528068.1:n.*4188G>C
XM_011529767.2:c.*4188G>C XP_011528069.1:n.*4188G>C
XM_011529768.2:c.*4188G>C XP_011528070.1:n.*4188G>C
XM_017028487.1:c.*4188G>C XP_016883976.1:n.*4188G>C
NM_001001890.3:c.*4188G>C NP_001001890.1:n.*4188G>C
NM_001754.5:c.*4188G>C MANE Select NP_001745.2:n.*4188G>C
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