Canonical Allele Identifier: CA7723604

Gene: FANCI POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89305202T>A , CM000677.2:g.89305202T>A	GRCh38
NC_000015.9:g.89848433T>A , CM000677.1:g.89848433T>A	GRCh37
NC_000015.8:g.87649437T>A	NCBI36
NG_011736.1:g.66240T>A , LRG_500:g.66240T>A
NG_008218.2:g.34594A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.3146T>A (FANCI) MANE Select	NP_001106849.1:p.Leu1049Ter
ENST00000310775.12:c.3146T>A (FANCI) MANE Select	ENSP00000310842.8:p.Leu1049Ter
NM_001113378.1:c.3146T>A , LRG_500t1:c.3146T>A (FANCI)	NP_001106849.1:p.Leu1049Ter
NM_001376910.1:c.2867T>A (FANCI)	NP_001363839.1:p.Leu956Ter
NM_001376911.1:c.3146T>A (FANCI)	NP_001363840.1:p.Leu1049Ter
NM_018193.2:c.2966T>A (FANCI)	NP_060663.2:p.Leu989Ter
NM_018193.3:c.2966T>A (FANCI)	NP_060663.2:p.Leu989Ter
ENST00000300027.12:c.2966T>A (FANCI)	ENSP00000300027.8:p.Leu989Ter
ENST00000310775.11:c.3146T>A (FANCI)	ENSP00000310842.7:p.Leu1049Ter
ENST00000447611.6:c.2966T>A (FANCI)	ENSP00000413249.2:p.Leu989Ter
ENST00000561894.1:c.2445T>A (FANCI)
ENST00000565522.5:n.130-7702T>A (FANCI)
ENST00000566895.5:n.3153T>A (FANCI)
ENST00000635831.1:c.96A>T (POLG)
ENST00000674831.1:c.3146T>A (FANCI)	ENSP00000502474.1:p.Leu1049Ter
ENST00000676003.1:c.3104T>A (FANCI)	ENSP00000502254.1:p.Leu1035Ter
ENST00000696717.1:c.2867T>A (FANCI)	ENSP00000512830.1:p.Leu956Ter
ENST00000696718.1:c.2609T>A (FANCI)	ENSP00000512831.1:p.Leu870Ter
ENST00000696719.1:c.3146T>A (FANCI)	ENSP00000512832.1:p.Leu1049Ter
ENST00000696721.1:n.4731T>A (FANCI)
XM_011521756.1:c.3146T>A (FANCI)	XP_011520058.1:p.Leu1049Ter
XM_011521756.2:c.3146T>A (FANCI)	XP_011520058.1:p.Leu1049Ter
XM_011521757.1:c.3146T>A (FANCI)	XP_011520059.1:p.Leu1049Ter
XM_011521757.2:c.3146T>A (FANCI)	XP_011520059.1:p.Leu1049Ter
XM_011521758.1:c.3146T>A (FANCI)	XP_011520060.1:p.Leu1049Ter
XM_011521759.1:c.3146T>A (FANCI)	XP_011520061.1:p.Leu1049Ter
XM_011521760.1:c.3146T>A (FANCI)	XP_011520062.1:p.Leu1049Ter
XM_011521761.1:c.3146T>A (FANCI)	XP_011520063.1:p.Leu1049Ter
XM_011521762.1:c.3146T>A (FANCI)	XP_011520064.1:p.Leu1049Ter
XM_011521763.1:c.3104T>A (FANCI)	XP_011520065.1:p.Leu1035Ter
XM_011521764.1:c.2966T>A (FANCI)	XP_011520066.1:p.Leu989Ter
XM_011521764.2:c.2966T>A (FANCI)	XP_011520066.1:p.Leu989Ter
XM_011521765.1:c.2867T>A (FANCI)	XP_011520067.1:p.Leu956Ter
XM_011521766.1:c.2867T>A (FANCI)	XP_011520068.1:p.Leu956Ter
XM_011521767.1:c.2867T>A (FANCI)	XP_011520069.1:p.Leu956Ter
XM_011521767.2:c.2867T>A (FANCI)	XP_011520069.1:p.Leu956Ter
XM_011521768.1:c.3146T>A (FANCI)	XP_011520070.1:p.Leu1049Ter
XM_011521769.1:c.2801T>A (FANCI)	XP_011520071.1:p.Leu934Ter