Canonical Allele Identifier: CA19426959

Gene: RUNX3

Linked Data

• dbSNP Id: rs6693940
• gnomAD v2: 1-25251941-G-A
• gnomAD v3: 1-24925450-G-A
• gnomAD v4: 1-24925450-G-A
• MyVariant Identifiers: chr1:g.25251941G>A (hg19) ; chr1:g.24925450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.24925450G>A , CM000663.2:g.24925450G>A	GRCh38
NC_000001.10:g.25251941G>A , CM000663.1:g.25251941G>A	GRCh37
NC_000001.9:g.25124528G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000338888.4:c.481+2124C>T	ENSP00000343477.3:n.481+2124C>T
ENST00000308873.11:c.439+2124C>T MANE Select	ENSP00000308051.6:n.439+2124C>T
ENST00000308873.10:c.439+2124C>T	ENSP00000308051.6:n.439+2124C>T
ENST00000338888.3:c.481+2124C>T	ENSP00000343477.3:n.481+2124C>T
ENST00000399916.5:c.481+2124C>T	ENSP00000382800.1:n.481+2124C>T
ENST00000496967.1:n.213+2124C>T
NM_001031680.2:c.481+2124C>T	NP_001026850.1:n.481+2124C>T
NM_004350.2:c.439+2124C>T	NP_004341.1:n.439+2124C>T
XM_005246024.3:c.481+2124C>T	XP_005246081.1:n.481+2124C>T
XM_011542351.1:c.481+2124C>T	XP_011540653.1:n.481+2124C>T
NM_001320672.1:c.481+2124C>T	NP_001307601.1:n.481+2124C>T
XM_005246024.4:c.481+2124C>T	XP_005246081.1:n.481+2124C>T
XR_001737942.1:n.1122G>A
NM_004350.3:c.439+2124C>T MANE Select	NP_004341.1:n.439+2124C>T