Canonical Allele Identifier: CA748969244
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1196039150
gnomAD v3: 21-35301191-T-G
gnomAD v4: 21-35301191-T-G
MyVariant Identifiers: chr21:g.36673489T>G (hg19) chr21:g.35301191T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35301191T>G , CM000683.2:g.35301191T>G GRCh38
NC_000021.8:g.36673489T>G , CM000683.1:g.36673489T>G GRCh37
NC_000021.7:g.35595359T>G NCBI36
NG_011402.2:g.688520A>C , LRG_482:g.688520A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000475045.6:c.-197+160770A>C ENSP00000477072.1:n.-197+160770A>C
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