Canonical Allele Identifier: CA8202792

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 402597
• ClinVar RCV Id: RCV000454591 ; RCV000472616 ; RCV000727276 ; RCV001333097
• dbSNP Id: rs144034147
• ExAC: 16:84203639 A / T
• gnomAD v2: 16-84203639-A-T
• gnomAD v3: 16-84170033-A-T
• gnomAD v4: 16-84170033-A-T
• MyVariant Identifiers: chr16:g.84203639A>T (hg19) ; chr16:g.84170033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84170033A>T , CM000678.2:g.84170033A>T	GRCh38
NC_000016.9:g.84203639A>T , CM000678.1:g.84203639A>T	GRCh37
NC_000016.8:g.82761140A>T	NCBI36
NG_021174.1:g.29775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.1205A>T MANE Select	ENSP00000367815.5:p.Glu402Val
ENST00000378553.9:c.1205A>T	ENSP00000367815.5:p.Glu402Val
ENST00000563093.5:c.1205A>T	ENSP00000457373.1:p.Glu402Val
ENST00000563818.5:n.882A>T
ENST00000570298.5:n.1359A>T
NM_178452.4:c.1205A>T	NP_848547.4:p.Glu402Val
XM_006721129.1:c.1205A>T	XP_006721192.1:p.Glu402Val
XM_011522850.1:c.1253A>T	XP_011521152.1:p.Glu418Val
XM_011522851.1:c.1253A>T	XP_011521153.1:p.Glu418Val
XM_011522852.1:c.1205A>T	XP_011521154.1:p.Glu402Val
XM_011522853.1:c.1253A>T	XP_011521155.1:p.Glu418Val
XM_011522854.1:c.1253A>T	XP_011521156.1:p.Glu418Val
XM_011522855.1:c.1253A>T	XP_011521157.1:p.Glu418Val
XM_011522856.1:c.992A>T	XP_011521158.1:p.Glu331Val
XM_011522857.1:c.1253A>T	XP_011521159.1:p.Glu418Val
XM_011522858.1:c.1253A>T	XP_011521160.1:p.Glu418Val
XM_011522859.1:c.497A>T	XP_011521161.1:p.Glu166Val
XM_011522860.1:c.497A>T	XP_011521162.1:p.Glu166Val
NM_001318756.1:c.497A>T	NP_001305685.1:p.Glu166Val
NM_178452.5:c.1205A>T	NP_848547.4:p.Glu402Val
XM_006721129.3:c.1205A>T	XP_006721192.1:p.Glu402Val
XM_011522853.3:c.1253A>T	XP_011521155.1:p.Glu418Val
XM_011522854.3:c.1253A>T	XP_011521156.1:p.Glu418Val
XM_011522855.3:c.1253A>T	XP_011521157.1:p.Glu418Val
XM_011522857.3:c.1253A>T	XP_011521159.1:p.Glu418Val
XM_011522858.3:c.1253A>T	XP_011521160.1:p.Glu418Val
XM_017022918.2:c.1205A>T	XP_016878407.1:p.Glu402Val
XM_017022919.1:c.992A>T	XP_016878408.1:p.Glu331Val
XM_017022920.2:c.497A>T	XP_016878409.1:p.Glu166Val
XM_017022921.2:c.449A>T	XP_016878410.1:p.Glu150Val
XM_017022922.2:c.449A>T	XP_016878411.1:p.Glu150Val
XR_001751829.2:n.1427A>T
XR_001751830.2:n.1427A>T
XR_001751831.2:n.1379A>T
XR_001751832.1:n.1688A>T
NM_178452.6:c.1205A>T MANE Select	NP_848547.4:p.Glu402Val