Canonical Allele Identifier: CA2178869175
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

dbSNP Id: rs1595952282

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55491117A>G , CM000677.2:g.55491117A>G GRCh38
NC_000015.9:g.55783315A>G , CM000677.1:g.55783315A>G GRCh37
NC_000015.8:g.53570607A>G NCBI36
NG_021213.1:g.22118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.405+6T>C (DNAAF4) MANE Select ENSP00000323275.3:n.405+6T>C
ENST00000348518.4:c.405+6T>C (DNAAF4) ENSP00000299561.5:n.405+6T>C
ENST00000448430.6:c.405+6T>C (DNAAF4) ENSP00000403412.2:n.405+6T>C
ENST00000457155.6:c.405+6T>C (DNAAF4) ENSP00000402640.2:n.405+6T>C
ENST00000519017.1:n.426T>C (DNAAF4)
ENST00000522437.1:c.*215+6T>C (DNAAF4) ENSP00000429219.1:n.*215+6T>C
ENST00000524160.5:c.405+6T>C (DNAAF4) ENSP00000428097.1:n.405+6T>C
NM_001033559.2:c.405+6T>C (DNAAF4) NP_001028731.1:n.405+6T>C
NM_001033560.1:c.405+6T>C (DNAAF4) NP_001028732.1:n.405+6T>C
NM_130810.3:c.405+6T>C (DNAAF4) NP_570722.2:n.405+6T>C
NR_037923.1:n.660+6T>C (DNAAF4-CCPG1)
NM_130810.4:c.405+6T>C (DNAAF4) MANE Select NP_570722.2:n.405+6T>C
NM_001033559.3:c.405+6T>C (DNAAF4) NP_001028731.1:n.405+6T>C
NM_001033560.2:c.405+6T>C (DNAAF4) NP_001028732.1:n.405+6T>C