Canonical Allele Identifier: CA392546499

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• gnomAD v4: 15-55430686-G-C
• MyVariant Identifiers: chr15:g.55722884G>C (hg19) ; chr15:g.55430686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55430686G>C , CM000677.2:g.55430686G>C	GRCh38
NC_000015.9:g.55722884G>C , CM000677.1:g.55722884G>C	GRCh37
NC_000015.8:g.53510176G>C	NCBI36
NG_021213.1:g.82549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.1247C>G (DNAAF4) MANE Select	ENSP00000323275.3:p.Thr416Arg
ENST00000348518.4:c.1247C>G (DNAAF4)	ENSP00000299561.5:p.Thr416Arg
ENST00000448430.6:c.1047+4219C>G (DNAAF4)	ENSP00000403412.2:n.1047+4219C>G
ENST00000457155.6:c.*10C>G (DNAAF4)	ENSP00000402640.2:n.*10C>G
ENST00000524160.5:c.*480+1811C>G (DNAAF4)	ENSP00000428097.1:n.*480+1811C>G
NM_001033559.2:c.*10C>G (DNAAF4)	NP_001028731.1:n.*10C>G
NM_001033560.1:c.1047+4219C>G (DNAAF4)	NP_001028732.1:n.1047+4219C>G
NM_130810.3:c.1247C>G (DNAAF4)	NP_570722.2:p.Thr416Arg
NR_037923.1:n.1408+1811C>G (DNAAF4-CCPG1)
NM_130810.4:c.1247C>G (DNAAF4) MANE Select	NP_570722.2:p.Thr416Arg
NM_001033559.3:c.*10C>G (DNAAF4)	NP_001028731.1:n.*10C>G
NM_001033560.2:c.1047+4219C>G (DNAAF4)	NP_001028732.1:n.1047+4219C>G