Canonical Allele Identifier: CA393740371

Gene: FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89268527T>C , CM000677.2:g.89268527T>C	GRCh38
NC_000015.9:g.89811758T>C , CM000677.1:g.89811758T>C	GRCh37
NC_000015.8:g.87612762T>C	NCBI36
NG_011736.1:g.29565T>C , LRG_500:g.29565T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.882+2T>C MANE Select	NP_001106849.1:n.882+2T>C
ENST00000310775.12:c.882+2T>C MANE Select	ENSP00000310842.8:n.882+2T>C
NM_001113378.1:c.882+2T>C , LRG_500t1:c.882+2T>C	NP_001106849.1:n.882+2T>C
NM_001376910.1:c.603+2T>C	NP_001363839.1:n.603+2T>C
NM_001376911.1:c.882+2T>C	NP_001363840.1:n.882+2T>C
NM_018193.2:c.882+2T>C	NP_060663.2:n.882+2T>C
NM_018193.3:c.882+2T>C	NP_060663.2:n.882+2T>C
ENST00000300027.12:c.882+2T>C	ENSP00000300027.8:n.882+2T>C
ENST00000310775.11:c.882+2T>C	ENSP00000310842.7:n.882+2T>C
ENST00000447611.6:c.882+2T>C	ENSP00000413249.2:n.882+2T>C
ENST00000561894.1:c.361+2T>C
ENST00000565522.5:n.129+20801T>C
ENST00000570225.5:c.422T>C	ENSP00000454669.1:p.Val141Ala
ENST00000674831.1:c.882+2T>C	ENSP00000502474.1:n.882+2T>C
ENST00000676003.1:c.882+2T>C	ENSP00000502254.1:n.882+2T>C
ENST00000696717.1:c.603+2T>C	ENSP00000512830.1:n.603+2T>C
ENST00000696718.1:c.345+2T>C	ENSP00000512831.1:n.345+2T>C
ENST00000696719.1:c.882+2T>C	ENSP00000512832.1:n.882+2T>C
XM_011521756.1:c.882+2T>C	XP_011520058.1:n.882+2T>C
XM_011521756.2:c.882+2T>C	XP_011520058.1:n.882+2T>C
XM_011521757.1:c.882+2T>C	XP_011520059.1:n.882+2T>C
XM_011521757.2:c.882+2T>C	XP_011520059.1:n.882+2T>C
XM_011521758.1:c.882+2T>C	XP_011520060.1:n.882+2T>C
XM_011521759.1:c.882+2T>C	XP_011520061.1:n.882+2T>C
XM_011521760.1:c.882+2T>C	XP_011520062.1:n.882+2T>C
XM_011521761.1:c.882+2T>C	XP_011520063.1:n.882+2T>C
XM_011521762.1:c.882+2T>C	XP_011520064.1:n.882+2T>C
XM_011521763.1:c.882+2T>C	XP_011520065.1:n.882+2T>C
XM_011521764.1:c.882+2T>C	XP_011520066.1:n.882+2T>C
XM_011521764.2:c.882+2T>C	XP_011520066.1:n.882+2T>C
XM_011521765.1:c.603+2T>C	XP_011520067.1:n.603+2T>C
XM_011521766.1:c.603+2T>C	XP_011520068.1:n.603+2T>C
XM_011521767.1:c.603+2T>C	XP_011520069.1:n.603+2T>C
XM_011521767.2:c.603+2T>C	XP_011520069.1:n.603+2T>C
XM_011521768.1:c.882+2T>C	XP_011520070.1:n.882+2T>C
XM_011521769.1:c.882+2T>C	XP_011520071.1:n.882+2T>C