Canonical Allele Identifier: CA19426966
Gene: RUNX3 HGNC NCBI

Linked Data

dbSNP Id: rs546970255
gnomAD v3: 1-24925457-G-T
gnomAD v4: 1-24925457-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24925457G>T , CM000663.2:g.24925457G>T GRCh38
NC_000001.10:g.25251948G>T , CM000663.1:g.25251948G>T GRCh37
NC_000001.9:g.25124535G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000338888.4:c.481+2117C>A ENSP00000343477.3:n.481+2117C>A
ENST00000308873.11:c.439+2117C>A MANE Select ENSP00000308051.6:n.439+2117C>A
ENST00000308873.10:c.439+2117C>A ENSP00000308051.6:n.439+2117C>A
ENST00000338888.3:c.481+2117C>A ENSP00000343477.3:n.481+2117C>A
ENST00000399916.5:c.481+2117C>A ENSP00000382800.1:n.481+2117C>A
ENST00000496967.1:n.213+2117C>A
NM_001031680.2:c.481+2117C>A NP_001026850.1:n.481+2117C>A
NM_004350.2:c.439+2117C>A NP_004341.1:n.439+2117C>A
XM_005246024.3:c.481+2117C>A XP_005246081.1:n.481+2117C>A
XM_011542351.1:c.481+2117C>A XP_011540653.1:n.481+2117C>A
NM_001320672.1:c.481+2117C>A NP_001307601.1:n.481+2117C>A
XM_005246024.4:c.481+2117C>A XP_005246081.1:n.481+2117C>A
XR_001737942.1:n.1129G>T
NM_004350.3:c.439+2117C>A MANE Select NP_004341.1:n.439+2117C>A