Canonical Allele Identifier: CA392546515

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• MyVariant Identifiers: chr15:g.55722889T>G (hg19) ; chr15:g.55430691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55430691T>G , CM000677.2:g.55430691T>G	GRCh38
NC_000015.9:g.55722889T>G , CM000677.1:g.55722889T>G	GRCh37
NC_000015.8:g.53510181T>G	NCBI36
NG_021213.1:g.82544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.1242A>C (DNAAF4) MANE Select	ENSP00000323275.3:p.Gln414His
ENST00000348518.4:c.1242A>C (DNAAF4)	ENSP00000299561.5:p.Gln414His
ENST00000448430.6:c.1047+4214A>C (DNAAF4)	ENSP00000403412.2:n.1047+4214A>C
ENST00000457155.6:c.*5A>C (DNAAF4)	ENSP00000402640.2:n.*5A>C
ENST00000524160.5:c.*480+1806A>C (DNAAF4)	ENSP00000428097.1:n.*480+1806A>C
NM_001033559.2:c.*5A>C (DNAAF4)	NP_001028731.1:n.*5A>C
NM_001033560.1:c.1047+4214A>C (DNAAF4)	NP_001028732.1:n.1047+4214A>C
NM_130810.3:c.1242A>C (DNAAF4)	NP_570722.2:p.Gln414His
NR_037923.1:n.1408+1806A>C (DNAAF4-CCPG1)
NM_130810.4:c.1242A>C (DNAAF4) MANE Select	NP_570722.2:p.Gln414His
NM_001033559.3:c.*5A>C (DNAAF4)	NP_001028731.1:n.*5A>C
NM_001033560.2:c.1047+4214A>C (DNAAF4)	NP_001028732.1:n.1047+4214A>C