Canonical Allele Identifier: CA2178831793
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430686G= , CM000677.2:g.55430686G= GRCh38
NC_000015.9:g.55722884G= , CM000677.1:g.55722884G= GRCh37
NC_000015.8:g.53510176G= NCBI36
NG_021213.1:g.82549C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.1247C= (DNAAF4) MANE Select ENSP00000323275.3:p.Thr416=
ENST00000348518.4:c.1247C= (DNAAF4) ENSP00000299561.5:p.Thr416=
ENST00000448430.6:c.1047+4219C= (DNAAF4) ENSP00000403412.2:n.1047+4219C=
ENST00000457155.6:c.*10C= (DNAAF4) ENSP00000402640.2:n.*10C=
ENST00000524160.5:c.*480+1811C= (DNAAF4) ENSP00000428097.1:n.*480+1811C=
NM_001033559.2:c.*10C= (DNAAF4) NP_001028731.1:n.*10C=
NM_001033560.1:c.1047+4219C= (DNAAF4) NP_001028732.1:n.1047+4219C=
NM_130810.3:c.1247C= (DNAAF4) NP_570722.2:p.Thr416=
NR_037923.1:n.1408+1811C= (DNAAF4-CCPG1)
NM_130810.4:c.1247C= (DNAAF4) MANE Select NP_570722.2:p.Thr416=
NM_001033559.3:c.*10C= (DNAAF4) NP_001028731.1:n.*10C=
NM_001033560.2:c.1047+4219C= (DNAAF4) NP_001028732.1:n.1047+4219C=