Canonical Allele Identifier: CA637908400
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1417801655
gnomAD v2: 21-36673500-C-T
gnomAD v3: 21-35301202-C-T
gnomAD v4: 21-35301202-C-T
MyVariant Identifiers: chr21:g.36673500C>T (hg19) chr21:g.35301202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35301202C>T , CM000683.2:g.35301202C>T GRCh38
NC_000021.8:g.36673500C>T , CM000683.1:g.36673500C>T GRCh37
NC_000021.7:g.35595370C>T NCBI36
NG_011402.2:g.688509G>A , LRG_482:g.688509G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000475045.6:c.-197+160759G>A ENSP00000477072.1:n.-197+160759G>A
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