Canonical Allele Identifier: CA1139532390

Gene: FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89263898C>T , CM000677.2:g.89263898C>T	GRCh38
NC_000015.9:g.89807129C>T , CM000677.1:g.89807129C>T	GRCh37
NC_000015.8:g.87608133C>T	NCBI36
NG_011736.1:g.24936C>T , LRG_500:g.24936C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.546-5C>T MANE Select	NP_001106849.1:n.546-5C>T
ENST00000310775.12:c.546-5C>T MANE Select	ENSP00000310842.8:n.546-5C>T
NM_001113378.1:c.546-5C>T , LRG_500t1:c.546-5C>T	NP_001106849.1:n.546-5C>T
NM_001376910.1:c.267-5C>T	NP_001363839.1:n.267-5C>T
NM_001376911.1:c.546-5C>T	NP_001363840.1:n.546-5C>T
NM_018193.2:c.546-5C>T	NP_060663.2:n.546-5C>T
NM_018193.3:c.546-5C>T	NP_060663.2:n.546-5C>T
ENST00000300027.12:c.546-5C>T	ENSP00000300027.8:n.546-5C>T
ENST00000310775.11:c.546-5C>T	ENSP00000310842.7:n.546-5C>T
ENST00000447611.6:c.546-5C>T	ENSP00000413249.2:n.546-5C>T
ENST00000561894.1:c.25-5C>T
ENST00000563250.5:c.546-5C>T	ENSP00000457029.1:n.546-5C>T
ENST00000565255.5:c.546-5C>T	ENSP00000454371.1:n.546-5C>T
ENST00000565522.5:n.129+16172C>T
ENST00000567996.5:c.546-5C>T	ENSP00000458024.1:n.546-5C>T
ENST00000570225.5:c.84-5C>T	ENSP00000454669.1:n.84-5C>T
ENST00000674831.1:c.546-5C>T	ENSP00000502474.1:n.546-5C>T
ENST00000676003.1:c.546-5C>T	ENSP00000502254.1:n.546-5C>T
ENST00000696717.1:c.267-5C>T	ENSP00000512830.1:n.267-5C>T
ENST00000696718.1:c.9-5C>T	ENSP00000512831.1:n.9-5C>T
ENST00000696719.1:c.546-5C>T	ENSP00000512832.1:n.546-5C>T
XM_011521756.1:c.546-5C>T	XP_011520058.1:n.546-5C>T
XM_011521756.2:c.546-5C>T	XP_011520058.1:n.546-5C>T
XM_011521757.1:c.546-5C>T	XP_011520059.1:n.546-5C>T
XM_011521757.2:c.546-5C>T	XP_011520059.1:n.546-5C>T
XM_011521758.1:c.546-5C>T	XP_011520060.1:n.546-5C>T
XM_011521759.1:c.546-5C>T	XP_011520061.1:n.546-5C>T
XM_011521760.1:c.546-5C>T	XP_011520062.1:n.546-5C>T
XM_011521761.1:c.546-5C>T	XP_011520063.1:n.546-5C>T
XM_011521762.1:c.546-5C>T	XP_011520064.1:n.546-5C>T
XM_011521763.1:c.546-5C>T	XP_011520065.1:n.546-5C>T
XM_011521764.1:c.546-5C>T	XP_011520066.1:n.546-5C>T
XM_011521764.2:c.546-5C>T	XP_011520066.1:n.546-5C>T
XM_011521765.1:c.267-5C>T	XP_011520067.1:n.267-5C>T
XM_011521766.1:c.267-5C>T	XP_011520068.1:n.267-5C>T
XM_011521767.1:c.267-5C>T	XP_011520069.1:n.267-5C>T
XM_011521767.2:c.267-5C>T	XP_011520069.1:n.267-5C>T
XM_011521768.1:c.546-5C>T	XP_011520070.1:n.546-5C>T
XM_011521769.1:c.546-5C>T	XP_011520071.1:n.546-5C>T