Canonical Allele Identifier: CA392553210

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs600753
• gnomAD v3: 15-55466995-T-G
• gnomAD v4: 15-55466995-T-G
• MyVariant Identifiers: chr15:g.55759193T>G (hg19) ; chr15:g.55466995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55466995T>G , CM000677.2:g.55466995T>G	GRCh38
NC_000015.9:g.55759193T>G , CM000677.1:g.55759193T>G	GRCh37
NC_000015.8:g.53546485T>G	NCBI36
NG_021213.1:g.46240A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321149.7:c.572A>C (DNAAF4) MANE Select	ENSP00000323275.3:p.Glu191Ala
ENST00000348518.4:c.572A>C (DNAAF4)	ENSP00000299561.5:p.Glu191Ala
ENST00000448430.6:c.572A>C (DNAAF4)	ENSP00000403412.2:p.Glu191Ala
ENST00000457155.6:c.572A>C (DNAAF4)	ENSP00000402640.2:p.Glu191Ala
ENST00000522437.1:c.*382A>C (DNAAF4)	ENSP00000429219.1:n.*382A>C
ENST00000524160.5:c.406-16628A>C (DNAAF4)	ENSP00000428097.1:n.406-16628A>C
NM_001033559.2:c.572A>C (DNAAF4)	NP_001028731.1:p.Glu191Ala
NM_001033560.1:c.572A>C (DNAAF4)	NP_001028732.1:p.Glu191Ala
NM_130810.3:c.572A>C (DNAAF4)	NP_570722.2:p.Glu191Ala
NR_037923.1:n.827A>C (DNAAF4-CCPG1)
NM_130810.4:c.572A>C (DNAAF4) MANE Select	NP_570722.2:p.Glu191Ala
NM_001033559.3:c.572A>C (DNAAF4)	NP_001028731.1:p.Glu191Ala
NM_001033560.2:c.572A>C (DNAAF4)	NP_001028732.1:p.Glu191Ala