Canonical Allele Identifier: CA2178869323
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55491152G= , CM000677.2:g.55491152G= GRCh38
NC_000015.9:g.55783350G= , CM000677.1:g.55783350G= GRCh37
NC_000015.8:g.53570642G= NCBI36
NG_021213.1:g.22083C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.376C= (DNAAF4) MANE Select ENSP00000323275.3:p.Gln126=
ENST00000348518.4:c.376C= (DNAAF4) ENSP00000299561.5:p.Gln126=
ENST00000448430.6:c.376C= (DNAAF4) ENSP00000403412.2:p.Gln126=
ENST00000457155.6:c.376C= (DNAAF4) ENSP00000402640.2:p.Gln126=
ENST00000519017.1:n.391C= (DNAAF4)
ENST00000522437.1:c.*186C= (DNAAF4) ENSP00000429219.1:n.*186C=
ENST00000524160.5:c.376C= (DNAAF4) ENSP00000428097.1:p.Gln126=
NM_001033559.2:c.376C= (DNAAF4) NP_001028731.1:p.Gln126=
NM_001033560.1:c.376C= (DNAAF4) NP_001028732.1:p.Gln126=
NM_130810.3:c.376C= (DNAAF4) NP_570722.2:p.Gln126=
NR_037923.1:n.631C= (DNAAF4-CCPG1)
NM_130810.4:c.376C= (DNAAF4) MANE Select NP_570722.2:p.Gln126=
NM_001033559.3:c.376C= (DNAAF4) NP_001028731.1:p.Gln126=
NM_001033560.2:c.376C= (DNAAF4) NP_001028732.1:p.Gln126=