Canonical Allele Identifier: CA392551387
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55491131T>G , CM000677.2:g.55491131T>G GRCh38
NC_000015.9:g.55783329T>G , CM000677.1:g.55783329T>G GRCh37
NC_000015.8:g.53570621T>G NCBI36
NG_021213.1:g.22104A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.397A>C (DNAAF4) MANE Select ENSP00000323275.3:p.Met133Leu
ENST00000348518.4:c.397A>C (DNAAF4) ENSP00000299561.5:p.Met133Leu
ENST00000448430.6:c.397A>C (DNAAF4) ENSP00000403412.2:p.Met133Leu
ENST00000457155.6:c.397A>C (DNAAF4) ENSP00000402640.2:p.Met133Leu
ENST00000519017.1:n.412A>C (DNAAF4)
ENST00000522437.1:c.*207A>C (DNAAF4) ENSP00000429219.1:n.*207A>C
ENST00000524160.5:c.397A>C (DNAAF4) ENSP00000428097.1:p.Met133Leu
NM_001033559.2:c.397A>C (DNAAF4) NP_001028731.1:p.Met133Leu
NM_001033560.1:c.397A>C (DNAAF4) NP_001028732.1:p.Met133Leu
NM_130810.3:c.397A>C (DNAAF4) NP_570722.2:p.Met133Leu
NR_037923.1:n.652A>C (DNAAF4-CCPG1)
NM_130810.4:c.397A>C (DNAAF4) MANE Select NP_570722.2:p.Met133Leu
NM_001033559.3:c.397A>C (DNAAF4) NP_001028731.1:p.Met133Leu
NM_001033560.2:c.397A>C (DNAAF4) NP_001028732.1:p.Met133Leu