Canonical Allele Identifier: CA10014178
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258184
ClinVar RCV Id: RCV000241802 RCV000327560 RCV001651159 RCV003316391
dbSNP Id: rs61750222
ExAC: 21:36164486 G / C
gnomAD v2: 21-36164486-G-C
gnomAD v3: 21-34792189-G-C
gnomAD v4: 21-34792189-G-C
MyVariant Identifiers: chr21:g.36164486G>C (hg19) chr21:g.34792189G>C (hg38)
ERepo: CA10014178/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792189G>C , CM000683.2:g.34792189G>C GRCh38
NC_000021.8:g.36164486G>C , CM000683.1:g.36164486G>C GRCh37
NC_000021.7:g.35086356G>C NCBI36
NG_011402.2:g.1197523C>G , LRG_482:g.1197523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1389C>G MANE Select ENSP00000501943.1:p.Pro463=
ENST00000300305.7:c.1389C>G ENSP00000300305.3:p.Pro463=
ENST00000344691.8:c.1308C>G ENSP00000340690.4:p.Pro436=
ENST00000399240.5:c.1116C>G ENSP00000382184.1:p.Pro372=
ENST00000437180.5:c.1389C>G ENSP00000409227.1:p.Pro463=
ENST00000482318.5:c.*979C>G ENSP00000477067.1:n.*979C>G
NM_001001890.2:c.1308C>G NP_001001890.1:p.Pro436=
NM_001754.4:c.1389C>G , LRG_482t1:c.1389C>G NP_001745.2:p.Pro463=
XM_005261068.3:c.1353C>G XP_005261125.1:p.Pro451=
XM_005261069.3:c.1197C>G XP_005261126.1:p.Pro399=
XM_011529766.1:c.1389C>G XP_011528068.1:p.Pro463=
XM_011529767.1:c.1350C>G XP_011528069.1:p.Pro450=
XM_011529768.1:c.1158C>G XP_011528070.1:p.Pro386=
XM_005261069.4:c.1197C>G XP_005261126.1:p.Pro399=
XM_011529766.2:c.1389C>G XP_011528068.1:p.Pro463=
XM_011529767.2:c.1350C>G XP_011528069.1:p.Pro450=
XM_011529768.2:c.1158C>G XP_011528070.1:p.Pro386=
XM_017028487.1:c.1236C>G XP_016883976.1:p.Pro412=
NM_001001890.3:c.1308C>G NP_001001890.1:p.Pro436=
NM_001754.5:c.1389C>G MANE Select NP_001745.2:p.Pro463=
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