Canonical Allele Identifier: CA251645
Gene: FANCI HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 973
dbSNP Id: rs121918164

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89315318C>T , CM000677.2:g.89315318C>T GRCh38
NC_000015.9:g.89858549C>T , CM000677.1:g.89858549C>T GRCh37
NC_000015.8:g.87659553C>T NCBI36
NG_008218.1:g.24478G>A
NG_011736.1:g.76356C>T , LRG_500:g.76356C>T
NG_008218.2:g.24478G>A

Transcript Alleles

HGVS Amino-acid change
NM_001113378.1:c.3853C>T , LRG_500t1:c.3853C>T NP_001106849.1:p.Arg1285Ter
NM_018193.2:c.3673C>T VV NP_060663.2:p.Arg1225Ter
XM_011521756.1:c.3853C>T XP_011520058.1:p.Arg1285Ter
XM_011521757.1:c.3853C>T XP_011520059.1:p.Arg1285Ter
XM_011521758.1:c.3853C>T XP_011520060.1:p.Arg1285Ter
XM_011521759.1:c.3853C>T XP_011520061.1:p.Arg1285Ter
XM_011521760.1:c.3853C>T XP_011520062.1:p.Arg1285Ter
XM_011521761.1:c.3853C>T XP_011520063.1:p.Arg1285Ter
XM_011521762.1:c.3853C>T XP_011520064.1:p.Arg1285Ter
XM_011521763.1:c.3811C>T XP_011520065.1:p.Arg1271Ter
XM_011521764.1:c.3673C>T XP_011520066.1:p.Arg1225Ter
XM_011521765.1:c.3574C>T XP_011520067.1:p.Arg1192Ter
XM_011521766.1:c.3574C>T XP_011520068.1:p.Arg1192Ter
XM_011521767.1:c.3574C>T XP_011520069.1:p.Arg1192Ter
XM_011521769.1:c.3508C>T XP_011520071.1:p.Arg1170Ter
XM_011521756.2:c.3853C>T XP_011520058.1:p.Arg1285Ter
XM_011521757.2:c.3853C>T XP_011520059.1:p.Arg1285Ter
XM_011521764.2:c.3673C>T XP_011520066.1:p.Arg1225Ter
XM_011521767.2:c.3574C>T XP_011520069.1:p.Arg1192Ter
ENST00000300027.12:c.3673C>T ENSP00000300027.8:p.Arg1225Ter
ENST00000310775.11:c.3853C>T ENSP00000310842.7:p.Arg1285Ter
ENST00000447611.6:c.*197C>T ENSP00000413249.2:p.=
ENST00000561894.1:n.3149C>T
ENST00000566615.1:n.436C>T
ENST00000566895.5:n.3860C>T