Canonical Allele Identifier: CA339807
Gene: DNAAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264
dbSNP Id: rs267607225
COSMIC: COSM704554

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84159744C>T , CM000678.2:g.84159744C>T GRCh38
NC_000016.9:g.84193349C>T , CM000678.1:g.84193349C>T GRCh37
NC_000016.8:g.82750850C>T NCBI36
NG_021174.1:g.19485C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378553.10:c.811C>T MANE Select ENSP00000367815.5:p.Arg271Ter
ENST00000378553.9:c.811C>T ENSP00000367815.5:p.Arg271Ter
ENST00000563093.5:c.811C>T ENSP00000457373.1:p.Arg271Ter
ENST00000563818.5:n.440C>T
ENST00000567666.1:n.200C>T
ENST00000567918.5:c.*130C>T ENSP00000455154.1:n.*130C>T
ENST00000570298.5:n.965C>T
NM_178452.4:c.811C>T NP_848547.4:p.Arg271Ter
XM_006721129.1:c.811C>T XP_006721192.1:p.Arg271Ter
XM_011522850.1:c.811C>T XP_011521152.1:p.Arg271Ter
XM_011522851.1:c.811C>T XP_011521153.1:p.Arg271Ter
XM_011522852.1:c.811C>T XP_011521154.1:p.Arg271Ter
XM_011522853.1:c.811C>T XP_011521155.1:p.Arg271Ter
XM_011522854.1:c.811C>T XP_011521156.1:p.Arg271Ter
XM_011522855.1:c.811C>T XP_011521157.1:p.Arg271Ter
XM_011522856.1:c.550C>T XP_011521158.1:p.Arg184Ter
XM_011522857.1:c.811C>T XP_011521159.1:p.Arg271Ter
XM_011522858.1:c.811C>T XP_011521160.1:p.Arg271Ter
XM_011522859.1:c.55C>T XP_011521161.1:p.Arg19Ter
XM_011522860.1:c.55C>T XP_011521162.1:p.Arg19Ter
NM_001318756.1:c.55C>T NP_001305685.1:p.Arg19Ter
NM_178452.5:c.811C>T NP_848547.4:p.Arg271Ter
XM_006721129.3:c.811C>T XP_006721192.1:p.Arg271Ter
XM_011522853.3:c.811C>T XP_011521155.1:p.Arg271Ter
XM_011522854.3:c.811C>T XP_011521156.1:p.Arg271Ter
XM_011522855.3:c.811C>T XP_011521157.1:p.Arg271Ter
XM_011522857.3:c.811C>T XP_011521159.1:p.Arg271Ter
XM_011522858.3:c.811C>T XP_011521160.1:p.Arg271Ter
XM_017022918.2:c.811C>T XP_016878407.1:p.Arg271Ter
XM_017022919.1:c.550C>T XP_016878408.1:p.Arg184Ter
XM_017022920.2:c.55C>T XP_016878409.1:p.Arg19Ter
XM_017022921.2:c.55C>T XP_016878410.1:p.Arg19Ter
XM_017022922.2:c.55C>T XP_016878411.1:p.Arg19Ter
XR_001751829.2:n.985C>T
XR_001751830.2:n.985C>T
XR_001751831.2:n.985C>T
XR_001751832.1:n.1294C>T
NM_178452.6:c.811C>T MANE Select NP_848547.4:p.Arg271Ter