Canonical Allele Identifier: CA145167
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68449
ClinVar RCV Id: RCV003233100
dbSNP Id: rs397515622
gnomAD v4: 15-55491203-C-A
MyVariant Identifiers: chr15:g.55783401C>A (hg19) chr15:g.55491203C>A (hg38)
PubMed: PMID:23872636
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55491203C>A , CM000677.2:g.55491203C>A GRCh38
NC_000015.9:g.55783401C>A , CM000677.1:g.55783401C>A GRCh37
NC_000015.8:g.53570693C>A NCBI36
NG_021213.1:g.22032G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.325G>T (DNAAF4) MANE Select ENSP00000323275.3:p.Glu109Ter
ENST00000348518.4:c.325G>T (DNAAF4) ENSP00000299561.5:p.Glu109Ter
ENST00000448430.6:c.325G>T (DNAAF4) ENSP00000403412.2:p.Glu109Ter
ENST00000457155.6:c.325G>T (DNAAF4) ENSP00000402640.2:p.Glu109Ter
ENST00000519017.1:n.340G>T (DNAAF4)
ENST00000522437.1:c.*135G>T (DNAAF4) ENSP00000429219.1:n.*135G>T
ENST00000524160.5:c.325G>T (DNAAF4) ENSP00000428097.1:p.Glu109Ter
NM_001033559.2:c.325G>T (DNAAF4) NP_001028731.1:p.Glu109Ter
NM_001033560.1:c.325G>T (DNAAF4) NP_001028732.1:p.Glu109Ter
NM_130810.3:c.325G>T (DNAAF4) NP_570722.2:p.Glu109Ter
NR_037923.1:n.580G>T (DNAAF4-CCPG1)
NM_130810.4:c.325G>T (DNAAF4) MANE Select NP_570722.2:p.Glu109Ter
NM_001033559.3:c.325G>T (DNAAF4) NP_001028731.1:p.Glu109Ter
NM_001033560.2:c.325G>T (DNAAF4) NP_001028732.1:p.Glu109Ter
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