Canonical Allele Identifier: CA393740762
Community Standard Title: NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89307482C>T , CM000677.2:g.89307482C>T GRCh38
NC_000015.9:g.89850713C>T , CM000677.1:g.89850713C>T GRCh37
NC_000015.8:g.87651717C>T NCBI36
NG_011736.1:g.68520C>T , LRG_500:g.68520C>T
NG_008218.2:g.32314G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001113378.2:c.3544C>T (FANCI) MANE Select NP_001106849.1:p.Gln1182Ter
ENST00000310775.12:c.3544C>T (FANCI) MANE Select ENSP00000310842.8:p.Gln1182Ter
NM_001113378.1:c.3544C>T , LRG_500t1:c.3544C>T (FANCI) NP_001106849.1:p.Gln1182Ter
NM_001376910.1:c.3265C>T (FANCI) NP_001363839.1:p.Gln1089Ter
NM_001376911.1:c.3544C>T (FANCI) NP_001363840.1:p.Gln1182Ter
NM_018193.2:c.3364C>T (FANCI) NP_060663.2:p.Gln1122Ter
NM_018193.3:c.3364C>T (FANCI) NP_060663.2:p.Gln1122Ter
ENST00000300027.12:c.3364C>T (FANCI) ENSP00000300027.8:p.Gln1122Ter
ENST00000310775.11:c.3544C>T (FANCI) ENSP00000310842.7:p.Gln1182Ter
ENST00000447611.6:c.3176C>T (FANCI) ENSP00000413249.2:p.Pro1059Leu
ENST00000561894.1:c.2840C>T (FANCI)
ENST00000565522.5:n.130-5422C>T (FANCI)
ENST00000566895.5:n.3551C>T (FANCI)
ENST00000635831.1:c.74-2258G>A (POLG)
ENST00000674831.1:c.3544C>T (FANCI) ENSP00000502474.1:p.Gln1182Ter
ENST00000676003.1:c.3502C>T (FANCI) ENSP00000502254.1:p.Gln1168Ter
ENST00000696717.1:c.3265C>T (FANCI) ENSP00000512830.1:p.Gln1089Ter
ENST00000696718.1:c.3007C>T (FANCI) ENSP00000512831.1:p.Gln1003Ter
ENST00000696719.1:c.3544C>T (FANCI) ENSP00000512832.1:p.Gln1182Ter
ENST00000696721.1:n.5129C>T (FANCI)
ENST00000696722.1:n.624C>T (FANCI)
XM_011521756.1:c.3544C>T (FANCI) XP_011520058.1:p.Gln1182Ter
XM_011521756.2:c.3544C>T (FANCI) XP_011520058.1:p.Gln1182Ter
XM_011521757.1:c.3544C>T (FANCI) XP_011520059.1:p.Gln1182Ter
XM_011521757.2:c.3544C>T (FANCI) XP_011520059.1:p.Gln1182Ter
XM_011521758.1:c.3544C>T (FANCI) XP_011520060.1:p.Gln1182Ter
XM_011521759.1:c.3544C>T (FANCI) XP_011520061.1:p.Gln1182Ter
XM_011521760.1:c.3544C>T (FANCI) XP_011520062.1:p.Gln1182Ter
XM_011521761.1:c.3544C>T (FANCI) XP_011520063.1:p.Gln1182Ter
XM_011521762.1:c.3544C>T (FANCI) XP_011520064.1:p.Gln1182Ter
XM_011521763.1:c.3502C>T (FANCI) XP_011520065.1:p.Gln1168Ter
XM_011521764.1:c.3364C>T (FANCI) XP_011520066.1:p.Gln1122Ter
XM_011521764.2:c.3364C>T (FANCI) XP_011520066.1:p.Gln1122Ter
XM_011521765.1:c.3265C>T (FANCI) XP_011520067.1:p.Gln1089Ter
XM_011521766.1:c.3265C>T (FANCI) XP_011520068.1:p.Gln1089Ter
XM_011521767.1:c.3265C>T (FANCI) XP_011520069.1:p.Gln1089Ter
XM_011521767.2:c.3265C>T (FANCI) XP_011520069.1:p.Gln1089Ter
XM_011521768.1:c.3544C>T (FANCI) XP_011520070.1:p.Gln1182Ter
XM_011521769.1:c.3199C>T (FANCI) XP_011520071.1:p.Gln1067Ter