Canonical Allele Identifier: CA145164

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 68448
• ClinVar RCV Id: RCV000059318 ; RCV000726789 ; RCV002504978
• dbSNP Id: rs397515621
• ExAC: 15:55731755 G / A
• gnomAD v2: 15-55731755-G-A
• gnomAD v3: 15-55439557-G-A
• gnomAD v4: 15-55439557-G-A
• MyVariant Identifiers: chr15:g.55731755G>A (hg19) ; chr15:g.55439557G>A (hg38)
• PubMed: PMID:23872636

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55439557G>A , CM000677.2:g.55439557G>A	GRCh38
NC_000015.9:g.55731755G>A , CM000677.1:g.55731755G>A	GRCh37
NC_000015.8:g.53519047G>A	NCBI36
NG_021213.1:g.73678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.808C>T (DNAAF4) MANE Select	ENSP00000323275.3:p.Arg270Ter
ENST00000348518.4:c.808C>T (DNAAF4)	ENSP00000299561.5:p.Arg270Ter
ENST00000448430.6:c.808C>T (DNAAF4)	ENSP00000403412.2:p.Arg270Ter
ENST00000457155.6:c.808C>T (DNAAF4)	ENSP00000402640.2:p.Arg270Ter
ENST00000524160.5:c.*135C>T (DNAAF4)	ENSP00000428097.1:n.*135C>T
NM_001033559.2:c.808C>T (DNAAF4)	NP_001028731.1:p.Arg270Ter
NM_001033560.1:c.808C>T (DNAAF4)	NP_001028732.1:p.Arg270Ter
NM_130810.3:c.808C>T (DNAAF4)	NP_570722.2:p.Arg270Ter
NR_037923.1:n.1063C>T (DNAAF4-CCPG1)
NM_130810.4:c.808C>T (DNAAF4) MANE Select	NP_570722.2:p.Arg270Ter
NM_001033559.3:c.808C>T (DNAAF4)	NP_001028731.1:p.Arg270Ter
NM_001033560.2:c.808C>T (DNAAF4)	NP_001028732.1:p.Arg270Ter