Canonical Allele Identifier: CA392546538

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• MyVariant Identifiers: chr15:g.55722895T>G (hg19) ; chr15:g.55430697T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.1236A>C (DNAAF4) MANE Select	ENSP00000323275.3:p.Val412=
ENST00000348518.4:c.1236A>C (DNAAF4)	ENSP00000299561.5:p.Val412=
ENST00000448430.6:c.1047+4208A>C (DNAAF4)	ENSP00000403412.2:n.1047+4208A>C
ENST00000457155.6:c.1130A>C (DNAAF4)	ENSP00000402640.2:p.Ter377Ser
ENST00000524160.5:c.*480+1800A>C (DNAAF4)	ENSP00000428097.1:n.*480+1800A>C
NM_001033559.2:c.1130A>C (DNAAF4)	NP_001028731.1:p.Ter377Ser
NM_001033560.1:c.1047+4208A>C (DNAAF4)	NP_001028732.1:n.1047+4208A>C
NM_130810.3:c.1236A>C (DNAAF4)	NP_570722.2:p.Val412=
NR_037923.1:n.1408+1800A>C (DNAAF4-CCPG1)
NM_130810.4:c.1236A>C (DNAAF4) MANE Select	NP_570722.2:p.Val412=
NM_001033559.3:c.1130A>C (DNAAF4)	NP_001028731.1:p.Ter377Ser
NM_001033560.2:c.1047+4208A>C (DNAAF4)	NP_001028732.1:n.1047+4208A>C