Canonical Allele Identifier: CA490435112
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.55722892A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430694A>T , CM000677.2:g.55430694A>T GRCh38
NC_000015.9:g.55722892A>T , CM000677.1:g.55722892A>T GRCh37
NC_000015.8:g.53510184A>T NCBI36
NG_021213.1:g.82541T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.1239T>A (DNAAF4) MANE Select ENSP00000323275.3:p.Ile413=
ENST00000348518.4:c.1239T>A (DNAAF4) ENSP00000299561.5:p.Ile413=
ENST00000448430.6:c.1047+4211T>A (DNAAF4) ENSP00000403412.2:n.1047+4211T>A
ENST00000457155.6:c.*2T>A (DNAAF4) ENSP00000402640.2:n.*2T>A
ENST00000524160.5:c.*480+1803T>A (DNAAF4) ENSP00000428097.1:n.*480+1803T>A
NM_001033559.2:c.*2T>A (DNAAF4) NP_001028731.1:n.*2T>A
NM_001033560.1:c.1047+4211T>A (DNAAF4) NP_001028732.1:n.1047+4211T>A
NM_130810.3:c.1239T>A (DNAAF4) NP_570722.2:p.Ile413=
NR_037923.1:n.1408+1803T>A (DNAAF4-CCPG1)
NM_130810.4:c.1239T>A (DNAAF4) MANE Select NP_570722.2:p.Ile413=
NM_001033559.3:c.*2T>A (DNAAF4) NP_001028731.1:n.*2T>A
NM_001033560.2:c.1047+4211T>A (DNAAF4) NP_001028732.1:n.1047+4211T>A