Canonical Allele Identifier: CA2178831806
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430692T= , CM000677.2:g.55430692T= GRCh38
NC_000015.9:g.55722890T= , CM000677.1:g.55722890T= GRCh37
NC_000015.8:g.53510182T= NCBI36
NG_021213.1:g.82543A=

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.1241A= (DNAAF4) MANE Select ENSP00000323275.3:p.Gln414=
ENST00000348518.4:c.1241A= (DNAAF4) ENSP00000299561.5:p.Gln414=
ENST00000448430.6:c.1047+4213A= (DNAAF4) ENSP00000403412.2:n.1047+4213A=
ENST00000457155.6:c.*4A= (DNAAF4) ENSP00000402640.2:n.*4A=
ENST00000524160.5:c.*480+1805A= (DNAAF4) ENSP00000428097.1:n.*480+1805A=
NM_001033559.2:c.*4A= (DNAAF4) NP_001028731.1:n.*4A=
NM_001033560.1:c.1047+4213A= (DNAAF4) NP_001028732.1:n.1047+4213A=
NM_130810.3:c.1241A= (DNAAF4) NP_570722.2:p.Gln414=
NR_037923.1:n.1408+1805A= (DNAAF4-CCPG1)
NM_130810.4:c.1241A= (DNAAF4) MANE Select NP_570722.2:p.Gln414=
NM_001033559.3:c.*4A= (DNAAF4) NP_001028731.1:n.*4A=
NM_001033560.2:c.1047+4213A= (DNAAF4) NP_001028732.1:n.1047+4213A=