Canonical Allele Identifier: CA320423785
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs530903055
gnomAD v2: 21-37013636-A-G
gnomAD v3: 21-35641338-A-G
gnomAD v4: 21-35641338-A-G
MyVariant Identifiers: chr21:g.37013636A>G (hg19) chr21:g.35641338A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35641338A>G , CM000683.2:g.35641338A>G GRCh38
NC_000021.8:g.37013636A>G , CM000683.1:g.37013636A>G GRCh37
NC_000021.7:g.35935506A>G NCBI36
NG_011402.2:g.348373T>C , LRG_482:g.348373T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475045.6:c.-532+13482T>C ENSP00000477072.1:n.-532+13482T>C
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