Canonical Allele Identifier: CA7574767

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 1082173
• ClinVar RCV Id: RCV001398396
• dbSNP Id: rs751024286
• ExAC: 15:55722883 T / C
• gnomAD v2: 15-55722883-T-C
• gnomAD v3: 15-55430685-T-C
• gnomAD v4: 15-55430685-T-C
• MyVariant Identifiers: chr15:g.55722883T>C (hg19) ; chr15:g.55430685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55430685T>C , CM000677.2:g.55430685T>C	GRCh38
NC_000015.9:g.55722883T>C , CM000677.1:g.55722883T>C	GRCh37
NC_000015.8:g.53510175T>C	NCBI36
NG_021213.1:g.82550A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321149.7:c.1248A>G (DNAAF4) MANE Select	ENSP00000323275.3:p.Thr416=
ENST00000348518.4:c.1248A>G (DNAAF4)	ENSP00000299561.5:p.Thr416=
ENST00000448430.6:c.1047+4220A>G (DNAAF4)	ENSP00000403412.2:n.1047+4220A>G
ENST00000457155.6:c.*11A>G (DNAAF4)	ENSP00000402640.2:n.*11A>G
ENST00000524160.5:c.*480+1812A>G (DNAAF4)	ENSP00000428097.1:n.*480+1812A>G
NM_001033559.2:c.*11A>G (DNAAF4)	NP_001028731.1:n.*11A>G
NM_001033560.1:c.1047+4220A>G (DNAAF4)	NP_001028732.1:n.1047+4220A>G
NM_130810.3:c.1248A>G (DNAAF4)	NP_570722.2:p.Thr416=
NR_037923.1:n.1408+1812A>G (DNAAF4-CCPG1)
NM_130810.4:c.1248A>G (DNAAF4) MANE Select	NP_570722.2:p.Thr416=
NM_001033559.3:c.*11A>G (DNAAF4)	NP_001028731.1:n.*11A>G
NM_001033560.2:c.1047+4220A>G (DNAAF4)	NP_001028732.1:n.1047+4220A>G