Canonical Allele Identifier: CA392546537
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430697T>A , CM000677.2:g.55430697T>A GRCh38
NC_000015.9:g.55722895T>A , CM000677.1:g.55722895T>A GRCh37
NC_000015.8:g.53510187T>A NCBI36
NG_021213.1:g.82538A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.1236A>T (DNAAF4) MANE Select ENSP00000323275.3:p.Val412=
ENST00000348518.4:c.1236A>T (DNAAF4) ENSP00000299561.5:p.Val412=
ENST00000448430.6:c.1047+4208A>T (DNAAF4) ENSP00000403412.2:n.1047+4208A>T
ENST00000457155.6:c.1130A>T (DNAAF4) ENSP00000402640.2:p.Ter377Leu
ENST00000524160.5:c.*480+1800A>T (DNAAF4) ENSP00000428097.1:n.*480+1800A>T
NM_001033559.2:c.1130A>T (DNAAF4) NP_001028731.1:p.Ter377Leu
NM_001033560.1:c.1047+4208A>T (DNAAF4) NP_001028732.1:n.1047+4208A>T
NM_130810.3:c.1236A>T (DNAAF4) NP_570722.2:p.Val412=
NR_037923.1:n.1408+1800A>T (DNAAF4-CCPG1)
NM_130810.4:c.1236A>T (DNAAF4) MANE Select NP_570722.2:p.Val412=
NM_001033559.3:c.1130A>T (DNAAF4) NP_001028731.1:p.Ter377Leu
NM_001033560.2:c.1047+4208A>T (DNAAF4) NP_001028732.1:n.1047+4208A>T