Canonical Allele Identifier: CA392551486

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 938448
• ClinVar RCV Id: RCV001207667
• dbSNP Id: rs2058566517
• MyVariant Identifiers: chr15:g.55783378T>G (hg19) ; chr15:g.55491180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491180T>G , CM000677.2:g.55491180T>G	GRCh38
NC_000015.9:g.55783378T>G , CM000677.1:g.55783378T>G	GRCh37
NC_000015.8:g.53570670T>G	NCBI36
NG_021213.1:g.22055A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.348A>C (DNAAF4) MANE Select	ENSP00000323275.3:p.Glu116Asp
ENST00000348518.4:c.348A>C (DNAAF4)	ENSP00000299561.5:p.Glu116Asp
ENST00000448430.6:c.348A>C (DNAAF4)	ENSP00000403412.2:p.Glu116Asp
ENST00000457155.6:c.348A>C (DNAAF4)	ENSP00000402640.2:p.Glu116Asp
ENST00000519017.1:n.363A>C (DNAAF4)
ENST00000522437.1:c.*158A>C (DNAAF4)	ENSP00000429219.1:n.*158A>C
ENST00000524160.5:c.348A>C (DNAAF4)	ENSP00000428097.1:p.Glu116Asp
NM_001033559.2:c.348A>C (DNAAF4)	NP_001028731.1:p.Glu116Asp
NM_001033560.1:c.348A>C (DNAAF4)	NP_001028732.1:p.Glu116Asp
NM_130810.3:c.348A>C (DNAAF4)	NP_570722.2:p.Glu116Asp
NR_037923.1:n.603A>C (DNAAF4-CCPG1)
NM_130810.4:c.348A>C (DNAAF4) MANE Select	NP_570722.2:p.Glu116Asp
NM_001033559.3:c.348A>C (DNAAF4)	NP_001028731.1:p.Glu116Asp
NM_001033560.2:c.348A>C (DNAAF4)	NP_001028732.1:p.Glu116Asp