Canonical Allele Identifier: CA2178831789
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430684C= , CM000677.2:g.55430684C= GRCh38
NC_000015.9:g.55722882C= , CM000677.1:g.55722882C= GRCh37
NC_000015.8:g.53510174C= NCBI36
NG_021213.1:g.82551G=

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.1249G= (DNAAF4) MANE Select ENSP00000323275.3:p.Glu417=
ENST00000348518.4:c.1249G= (DNAAF4) ENSP00000299561.5:p.Glu417=
ENST00000448430.6:c.1047+4221G= (DNAAF4) ENSP00000403412.2:n.1047+4221G=
ENST00000457155.6:c.*12G= (DNAAF4) ENSP00000402640.2:n.*12G=
ENST00000524160.5:c.*480+1813G= (DNAAF4) ENSP00000428097.1:n.*480+1813G=
NM_001033559.2:c.*12G= (DNAAF4) NP_001028731.1:n.*12G=
NM_001033560.1:c.1047+4221G= (DNAAF4) NP_001028732.1:n.1047+4221G=
NM_130810.3:c.1249G= (DNAAF4) NP_570722.2:p.Glu417=
NR_037923.1:n.1408+1813G= (DNAAF4-CCPG1)
NM_130810.4:c.1249G= (DNAAF4) MANE Select NP_570722.2:p.Glu417=
NM_001033559.3:c.*12G= (DNAAF4) NP_001028731.1:n.*12G=
NM_001033560.2:c.1047+4221G= (DNAAF4) NP_001028732.1:n.1047+4221G=