Canonical Allele Identifier: CA2630246358
Gene: FANCI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89264039A>T , CM000677.2:g.89264039A>T GRCh38
NC_000015.9:g.89807270A>T , CM000677.1:g.89807270A>T GRCh37
NC_000015.8:g.87608274A>T NCBI36
NG_011736.1:g.25077A>T , LRG_500:g.25077A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696717.1:c.390+13A>T ENSP00000512830.1:n.390+13A>T
ENST00000696718.1:c.132+13A>T ENSP00000512831.1:n.132+13A>T
ENST00000696719.1:c.669+13A>T ENSP00000512832.1:n.669+13A>T
ENST00000310775.12:c.669+13A>T MANE Select ENSP00000310842.8:n.669+13A>T
ENST00000674831.1:c.669+13A>T ENSP00000502474.1:n.669+13A>T
ENST00000676003.1:c.669+13A>T ENSP00000502254.1:n.669+13A>T
ENST00000300027.12:c.669+13A>T ENSP00000300027.8:n.669+13A>T
ENST00000310775.11:c.669+13A>T ENSP00000310842.7:n.669+13A>T
ENST00000447611.6:c.669+13A>T ENSP00000413249.2:n.669+13A>T
ENST00000561894.1:c.148+13A>T
ENST00000565522.5:n.129+16313A>T
ENST00000567996.5:c.669+13A>T ENSP00000458024.1:n.669+13A>T
ENST00000570225.5:c.207+13A>T ENSP00000454669.1:n.207+13A>T
NM_001113378.1:c.669+13A>T , LRG_500t1:c.669+13A>T NP_001106849.1:n.669+13A>T
NM_018193.2:c.669+13A>T NP_060663.2:n.669+13A>T
XM_011521756.1:c.669+13A>T XP_011520058.1:n.669+13A>T
XM_011521757.1:c.669+13A>T XP_011520059.1:n.669+13A>T
XM_011521758.1:c.669+13A>T XP_011520060.1:n.669+13A>T
XM_011521759.1:c.669+13A>T XP_011520061.1:n.669+13A>T
XM_011521760.1:c.669+13A>T XP_011520062.1:n.669+13A>T
XM_011521761.1:c.669+13A>T XP_011520063.1:n.669+13A>T
XM_011521762.1:c.669+13A>T XP_011520064.1:n.669+13A>T
XM_011521763.1:c.669+13A>T XP_011520065.1:n.669+13A>T
XM_011521764.1:c.669+13A>T XP_011520066.1:n.669+13A>T
XM_011521765.1:c.390+13A>T XP_011520067.1:n.390+13A>T
XM_011521766.1:c.390+13A>T XP_011520068.1:n.390+13A>T
XM_011521767.1:c.390+13A>T XP_011520069.1:n.390+13A>T
XM_011521768.1:c.669+13A>T XP_011520070.1:n.669+13A>T
XM_011521769.1:c.669+13A>T XP_011520071.1:n.669+13A>T
XM_011521756.2:c.669+13A>T XP_011520058.1:n.669+13A>T
XM_011521757.2:c.669+13A>T XP_011520059.1:n.669+13A>T
XM_011521764.2:c.669+13A>T XP_011520066.1:n.669+13A>T
XM_011521767.2:c.390+13A>T XP_011520069.1:n.390+13A>T
NM_001113378.2:c.669+13A>T MANE Select NP_001106849.1:n.669+13A>T
NM_001376910.1:c.390+13A>T NP_001363839.1:n.390+13A>T
NM_001376911.1:c.669+13A>T NP_001363840.1:n.669+13A>T
NM_018193.3:c.669+13A>T NP_060663.2:n.669+13A>T