Canonical Allele Identifier: CA14870806
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2834886
gnomAD v2: 21-36673484-T-C
gnomAD v3: 21-35301186-T-C
gnomAD v4: 21-35301186-T-C
MyVariant Identifiers: chr21:g.36673484T>C (hg19) chr21:g.35301186T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35301186T>C , CM000683.2:g.35301186T>C GRCh38
NC_000021.8:g.36673484T>C , CM000683.1:g.36673484T>C GRCh37
NC_000021.7:g.35595354T>C NCBI36
NG_011402.2:g.688525A>G , LRG_482:g.688525A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000475045.6:c.-197+160775A>G ENSP00000477072.1:n.-197+160775A>G
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