Canonical Allele Identifier: CA8203160

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 242161
• ClinVar RCV Id: RCV000228813 ; RCV001120651
• dbSNP Id: rs769877978
• ExAC: 16:84211351 C / T
• gnomAD v2: 16-84211351-C-T
• gnomAD v3: 16-84177745-C-T
• gnomAD v4: 16-84177745-C-T
• MyVariant Identifiers: chr16:g.84211351C>T (hg19) ; chr16:g.84177745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177745C>T , CM000678.2:g.84177745C>T	GRCh38
NC_000016.9:g.84211351C>T , CM000678.1:g.84211351C>T	GRCh37
NC_000016.8:g.82768852C>T	NCBI36
NG_021174.1:g.37487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.2082C>T MANE Select	ENSP00000367815.5:p.Ala694=
ENST00000378553.9:c.2082C>T	ENSP00000367815.5:p.Ala694=
ENST00000562024.1:n.554C>T
ENST00000563818.5:n.1759C>T
ENST00000564928.1:c.160-645C>T
ENST00000569735.1:c.477C>T	ENSP00000454960.1:p.Ala159=
ENST00000570298.5:n.4535C>T
ENST00000623406.1:n.2518C>T
NM_178452.4:c.2082C>T	NP_848547.4:p.Ala694=
XM_006721129.1:c.2088C>T	XP_006721192.1:p.Ala696=
XM_011522850.1:c.2364C>T	XP_011521152.1:p.Ala788=
XM_011522851.1:c.2358C>T	XP_011521153.1:p.Ala786=
XM_011522852.1:c.2316C>T	XP_011521154.1:p.Ala772=
XM_011522853.1:c.2223C>T	XP_011521155.1:p.Ala741=
XM_011522854.1:c.2136C>T	XP_011521156.1:p.Ala712=
XM_011522855.1:c.2130C>T	XP_011521157.1:p.Ala710=
XM_011522856.1:c.2103C>T	XP_011521158.1:p.Ala701=
XM_011522859.1:c.1608C>T	XP_011521161.1:p.Ala536=
XM_011522860.1:c.1374C>T	XP_011521162.1:p.Ala458=
NM_001318756.1:c.1374C>T	NP_001305685.1:p.Ala458=
NM_178452.5:c.2082C>T	NP_848547.4:p.Ala694=
XM_006721129.3:c.2088C>T	XP_006721192.1:p.Ala696=
XM_011522853.3:c.2223C>T	XP_011521155.1:p.Ala741=
XM_011522854.3:c.2136C>T	XP_011521156.1:p.Ala712=
XM_011522855.3:c.2130C>T	XP_011521157.1:p.Ala710=
XM_017022918.2:c.2175C>T	XP_016878407.1:p.Ala725=
XM_017022919.1:c.1962C>T	XP_016878408.1:p.Ala654=
XM_017022920.2:c.1467C>T	XP_016878409.1:p.Ala489=
XM_017022921.2:c.1419C>T	XP_016878410.1:p.Ala473=
XM_017022922.2:c.1326C>T	XP_016878411.1:p.Ala442=
XR_001751829.2:n.2793C>T
XR_001751830.2:n.2787C>T
XR_001751831.2:n.2739C>T
XR_001751832.1:n.5341C>T
NM_178452.6:c.2082C>T MANE Select	NP_848547.4:p.Ala694=