Canonical Allele Identifier: CA10665289
Gene: RUNX3 HGNC NCBI
COSMIC:
COSN6451150 (not active)
MyVariant.info:
GRCh38 chr1:g.24917276A>G
GRCh37 chr1:g.25243767A>G
gnomAD v2:
1:25243767 A / G
gnomAD v3:
1:24917276 A / G
gnomAD v4:
chr1-24917276-A-G
Joint Max Group AF 0.56658071 (SAS)
Genomes Max Group AF 0.56658071 (SAS)
dbSNP:
2236852
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24917276A>G , CM000663.2:g.24917276A>G GRCh38
NC_000001.10:g.25243767A>G , CM000663.1:g.25243767A>G GRCh37
NC_000001.9:g.25116354A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000338888.4:c.586+1964T>C ENSP00000343477.3:n.586+1964T>C
ENST00000308873.11:c.544+1964T>C MANE Select ENSP00000308051.6:n.544+1964T>C
ENST00000308873.10:c.544+1964T>C ENSP00000308051.6:n.544+1964T>C
ENST00000338888.3:c.586+1964T>C ENSP00000343477.3:n.586+1964T>C
ENST00000399916.5:c.586+1964T>C ENSP00000382800.1:n.586+1964T>C
ENST00000496967.1:n.318+1964T>C
NM_001031680.2:c.586+1964T>C NP_001026850.1:n.586+1964T>C
NM_004350.2:c.544+1964T>C NP_004341.1:n.544+1964T>C
XM_005246024.3:c.586+1964T>C XP_005246081.1:n.586+1964T>C
XM_011542351.1:c.586+1964T>C XP_011540653.1:n.586+1964T>C
NM_001320672.1:c.586+1964T>C NP_001307601.1:n.586+1964T>C
XM_005246024.4:c.586+1964T>C XP_005246081.1:n.586+1964T>C
NM_004350.3:c.544+1964T>C MANE Select NP_004341.1:n.544+1964T>C
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