Canonical Allele Identifier: CA393736894

Gene: FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89299889T>A , CM000677.2:g.89299889T>A	GRCh38
NC_000015.9:g.89843120T>A , CM000677.1:g.89843120T>A	GRCh37
NC_000015.8:g.87644124T>A	NCBI36
NG_011736.1:g.60927T>A , LRG_500:g.60927T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.2726T>A MANE Select	NP_001106849.1:p.Leu909Ter
ENST00000310775.12:c.2726T>A MANE Select	ENSP00000310842.8:p.Leu909Ter
NM_001113378.1:c.2726T>A , LRG_500t1:c.2726T>A	NP_001106849.1:p.Leu909Ter
NM_001376910.1:c.2447T>A	NP_001363839.1:p.Leu816Ter
NM_001376911.1:c.2726T>A	NP_001363840.1:p.Leu909Ter
NM_018193.2:c.2546T>A	NP_060663.2:p.Leu849Ter
NM_018193.3:c.2546T>A	NP_060663.2:p.Leu849Ter
ENST00000300027.12:c.2546T>A	ENSP00000300027.8:p.Leu849Ter
ENST00000310775.11:c.2726T>A	ENSP00000310842.7:p.Leu909Ter
ENST00000447611.6:c.2546T>A	ENSP00000413249.2:p.Leu849Ter
ENST00000561894.1:c.2025T>A
ENST00000565522.5:n.130-13015T>A
ENST00000566895.5:n.2733T>A
ENST00000674831.1:c.2726T>A	ENSP00000502474.1:p.Leu909Ter
ENST00000676003.1:c.2684T>A	ENSP00000502254.1:p.Leu895Ter
ENST00000696717.1:c.2447T>A	ENSP00000512830.1:p.Leu816Ter
ENST00000696718.1:c.2189T>A	ENSP00000512831.1:p.Leu730Ter
ENST00000696719.1:c.2726T>A	ENSP00000512832.1:p.Leu909Ter
ENST00000696721.1:n.691T>A
XM_011521756.1:c.2726T>A	XP_011520058.1:p.Leu909Ter
XM_011521756.2:c.2726T>A	XP_011520058.1:p.Leu909Ter
XM_011521757.1:c.2726T>A	XP_011520059.1:p.Leu909Ter
XM_011521757.2:c.2726T>A	XP_011520059.1:p.Leu909Ter
XM_011521758.1:c.2726T>A	XP_011520060.1:p.Leu909Ter
XM_011521759.1:c.2726T>A	XP_011520061.1:p.Leu909Ter
XM_011521760.1:c.2726T>A	XP_011520062.1:p.Leu909Ter
XM_011521761.1:c.2726T>A	XP_011520063.1:p.Leu909Ter
XM_011521762.1:c.2726T>A	XP_011520064.1:p.Leu909Ter
XM_011521763.1:c.2684T>A	XP_011520065.1:p.Leu895Ter
XM_011521764.1:c.2546T>A	XP_011520066.1:p.Leu849Ter
XM_011521764.2:c.2546T>A	XP_011520066.1:p.Leu849Ter
XM_011521765.1:c.2447T>A	XP_011520067.1:p.Leu816Ter
XM_011521766.1:c.2447T>A	XP_011520068.1:p.Leu816Ter
XM_011521767.1:c.2447T>A	XP_011520069.1:p.Leu816Ter
XM_011521767.2:c.2447T>A	XP_011520069.1:p.Leu816Ter
XM_011521768.1:c.2726T>A	XP_011520070.1:p.Leu909Ter
XM_011521769.1:c.2381T>A	XP_011520071.1:p.Leu794Ter