Canonical Allele Identifier: CA512341156
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1160372
ClinVar RCV Id: RCV001504464
dbSNP Id: rs544247912
gnomAD v2: 21-36164606-G-C
gnomAD v4: 21-34792309-G-C
MyVariant Identifiers: chr21:g.36164606G>C (hg19) chr21:g.34792309G>C (hg38)
ERepo: CA512341156/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792309G>C , CM000683.2:g.34792309G>C GRCh38
NC_000021.8:g.36164606G>C , CM000683.1:g.36164606G>C GRCh37
NC_000021.7:g.35086476G>C NCBI36
NG_011402.2:g.1197403C>G , LRG_482:g.1197403C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1269C>G MANE Select ENSP00000501943.1:p.Arg423=
ENST00000300305.7:c.1269C>G ENSP00000300305.3:p.Arg423=
ENST00000344691.8:c.1188C>G ENSP00000340690.4:p.Arg396=
ENST00000399240.5:c.996C>G ENSP00000382184.1:p.Arg332=
ENST00000437180.5:c.1269C>G ENSP00000409227.1:p.Arg423=
ENST00000482318.5:c.*859C>G ENSP00000477067.1:n.*859C>G
NM_001001890.2:c.1188C>G NP_001001890.1:p.Arg396=
NM_001754.4:c.1269C>G , LRG_482t1:c.1269C>G NP_001745.2:p.Arg423=
XM_005261068.3:c.1233C>G XP_005261125.1:p.Arg411=
XM_005261069.3:c.1077C>G XP_005261126.1:p.Arg359=
XM_011529766.1:c.1269C>G XP_011528068.1:p.Arg423=
XM_011529767.1:c.1230C>G XP_011528069.1:p.Arg410=
XM_011529768.1:c.1038C>G XP_011528070.1:p.Arg346=
XM_005261069.4:c.1077C>G XP_005261126.1:p.Arg359=
XM_011529766.2:c.1269C>G XP_011528068.1:p.Arg423=
XM_011529767.2:c.1230C>G XP_011528069.1:p.Arg410=
XM_011529768.2:c.1038C>G XP_011528070.1:p.Arg346=
XM_017028487.1:c.1116C>G XP_016883976.1:p.Arg372=
NM_001001890.3:c.1188C>G NP_001001890.1:p.Arg396=
NM_001754.5:c.1269C>G MANE Select NP_001745.2:p.Arg423=
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