Canonical Allele Identifier: CA393744242
Community Standard Title: NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89314699A>T , CM000677.2:g.89314699A>T GRCh38
NC_000015.9:g.89857930A>T , CM000677.1:g.89857930A>T GRCh37
NC_000015.8:g.87658934A>T NCBI36
NG_008218.1:g.25097T>A
NG_011736.1:g.75737A>T , LRG_500:g.75737A>T
NG_008218.2:g.25097T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001113378.2:c.3808A>T (FANCI) MANE Select NP_001106849.1:p.Lys1270Ter
ENST00000310775.12:c.3808A>T (FANCI) MANE Select ENSP00000310842.8:p.Lys1270Ter
NM_001113378.1:c.3808A>T , LRG_500t1:c.3808A>T (FANCI) NP_001106849.1:p.Lys1270Ter
NM_001376910.1:c.3529A>T (FANCI) NP_001363839.1:p.Lys1177Ter
NM_001376911.1:c.3808A>T (FANCI) NP_001363840.1:p.Lys1270Ter
NM_018193.2:c.3628A>T (FANCI) NP_060663.2:p.Lys1210Ter
NM_018193.3:c.3628A>T (FANCI) NP_060663.2:p.Lys1210Ter
ENST00000300027.12:c.3628A>T (FANCI) ENSP00000300027.8:p.Lys1210Ter
ENST00000310775.11:c.3808A>T (FANCI) ENSP00000310842.7:p.Lys1270Ter
ENST00000447611.6:c.*152A>T (FANCI) ENSP00000413249.2:n.*152A>T
ENST00000561894.1:c.3104A>T (FANCI)
ENST00000566615.1:n.391A>T (FANCI)
ENST00000566895.5:n.3815A>T (FANCI)
ENST00000635831.1:c.73+2007T>A (POLG)
ENST00000674831.1:c.3940A>T (FANCI) ENSP00000502474.1:p.Lys1314Ter
ENST00000675352.1:n.3013A>T (FANCI)
ENST00000676003.1:c.3766A>T (FANCI) ENSP00000502254.1:p.Lys1256Ter
ENST00000676110.1:n.3389A>T (FANCI)
ENST00000696717.1:c.3529A>T (FANCI) ENSP00000512830.1:p.Lys1177Ter
ENST00000696718.1:c.3271A>T (FANCI) ENSP00000512831.1:p.Lys1091Ter
ENST00000696719.1:c.3808A>T (FANCI) ENSP00000512832.1:p.Lys1270Ter
ENST00000696721.1:n.5393A>T (FANCI)
XM_011521756.1:c.3808A>T (FANCI) XP_011520058.1:p.Lys1270Ter
XM_011521756.2:c.3808A>T (FANCI) XP_011520058.1:p.Lys1270Ter
XM_011521757.1:c.3808A>T (FANCI) XP_011520059.1:p.Lys1270Ter
XM_011521757.2:c.3808A>T (FANCI) XP_011520059.1:p.Lys1270Ter
XM_011521758.1:c.3808A>T (FANCI) XP_011520060.1:p.Lys1270Ter
XM_011521759.1:c.3808A>T (FANCI) XP_011520061.1:p.Lys1270Ter
XM_011521760.1:c.3808A>T (FANCI) XP_011520062.1:p.Lys1270Ter
XM_011521761.1:c.3808A>T (FANCI) XP_011520063.1:p.Lys1270Ter
XM_011521762.1:c.3808A>T (FANCI) XP_011520064.1:p.Lys1270Ter
XM_011521763.1:c.3766A>T (FANCI) XP_011520065.1:p.Lys1256Ter
XM_011521764.1:c.3628A>T (FANCI) XP_011520066.1:p.Lys1210Ter
XM_011521764.2:c.3628A>T (FANCI) XP_011520066.1:p.Lys1210Ter
XM_011521765.1:c.3529A>T (FANCI) XP_011520067.1:p.Lys1177Ter
XM_011521766.1:c.3529A>T (FANCI) XP_011520068.1:p.Lys1177Ter
XM_011521767.1:c.3529A>T (FANCI) XP_011520069.1:p.Lys1177Ter
XM_011521767.2:c.3529A>T (FANCI) XP_011520069.1:p.Lys1177Ter
XM_011521769.1:c.3463A>T (FANCI) XP_011520071.1:p.Lys1155Ter