Canonical Allele Identifier: CA6127221
Gene: RBM4 HGNC NCBI
RBM14-RBM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66643749G>A , CM000673.2:g.66643749G>A GRCh38
NC_000011.9:g.66411220G>A , CM000673.1:g.66411220G>A GRCh37
NC_000011.8:g.66167796G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310092.12:c.712G>A (RBM4) MANE Select ENSP00000309166.8:p.Ala238Thr
ENST00000396053.9:c.412+3626G>A (RBM4) ENSP00000413497.3:n.412+3626G>A
ENST00000310092.11:c.712G>A (RBM4) ENSP00000309166.7:p.Ala238Thr
ENST00000396053.8:c.412+3626G>A (RBM4) ENSP00000413497.3:n.412+3626G>A
ENST00000398692.8:c.413-2278G>A (RBM4) ENSP00000381680.4:n.413-2278G>A
ENST00000408993.6:c.712G>A (RBM4) ENSP00000386561.2:p.Ala238Thr
ENST00000409406.1:c.712G>A (RBM4) ENSP00000386894.1:p.Ala238Thr
ENST00000412278.2:c.637G>A (RBM14-RBM4) ENSP00000388552.2:p.Ala213Thr
ENST00000421355.1:c.*617G>A (RBM14-RBM4) ENSP00000395880.1:n.*617G>A
ENST00000500635.2:c.338-2278G>A (RBM14-RBM4) ENSP00000421279.1:n.338-2278G>A
ENST00000506523.6:c.412+3626G>A (RBM4) ENSP00000423572.2:n.412+3626G>A
ENST00000510173.6:c.492-110G>A (RBM4) ENSP00000422301.2:n.492-110G>A
ENST00000528039.5:n.323-2278G>A (RBM4)
ENST00000530235.1:c.413-2278G>A (RBM4) ENSP00000432150.1:n.413-2278G>A
ENST00000578778.5:c.412+3626G>A (RBM4) ENSP00000464349.1:n.412+3626G>A
NM_001198843.1:c.413-2278G>A (RBM4) NP_001185772.1:n.413-2278G>A
NM_001198844.1:c.412+3626G>A (RBM4) NP_001185773.1:n.412+3626G>A
NM_001198845.1:c.637G>A (RBM14-RBM4) NP_001185774.1:p.Ala213Thr
NM_001198846.1:c.338-2278G>A (RBM14-RBM4) NP_001185775.1:n.338-2278G>A
NM_002896.3:c.712G>A (RBM4) NP_002887.2:p.Ala238Thr
NM_001198844.2:c.412+3626G>A (RBM4) NP_001185773.1:n.412+3626G>A
NM_002896.4:c.712G>A (RBM4) MANE Select NP_002887.2:p.Ala238Thr
NM_001198843.2:c.413-2278G>A (RBM4) NP_001185772.1:n.413-2278G>A
NM_001198845.2:c.637G>A (RBM14-RBM4) NP_001185774.1:p.Ala213Thr
NM_001198846.2:c.338-2278G>A (RBM14-RBM4) NP_001185775.1:n.338-2278G>A