Canonical Allele Identifier: CA637908402
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1402587148
gnomAD v2: 21-36673529-G-A
gnomAD v3: 21-35301231-G-A
gnomAD v4: 21-35301231-G-A
MyVariant Identifiers: chr21:g.36673529G>A (hg19) chr21:g.35301231G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35301231G>A , CM000683.2:g.35301231G>A GRCh38
NC_000021.8:g.36673529G>A , CM000683.1:g.36673529G>A GRCh37
NC_000021.7:g.35595399G>A NCBI36
NG_011402.2:g.688480C>T , LRG_482:g.688480C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000475045.6:c.-197+160730C>T ENSP00000477072.1:n.-197+160730C>T
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