Canonical Allele Identifier: CA7723638

Gene: FANCI POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89305347G>A , CM000677.2:g.89305347G>A	GRCh38
NC_000015.9:g.89848578G>A , CM000677.1:g.89848578G>A	GRCh37
NC_000015.8:g.87649582G>A	NCBI36
NG_011736.1:g.66385G>A , LRG_500:g.66385G>A
NG_008218.2:g.34449C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.3193G>A (FANCI) MANE Select	NP_001106849.1:p.Glu1065Lys
ENST00000310775.12:c.3193G>A (FANCI) MANE Select	ENSP00000310842.8:p.Glu1065Lys
NM_001113378.1:c.3193G>A , LRG_500t1:c.3193G>A (FANCI)	NP_001106849.1:p.Glu1065Lys
NM_001376910.1:c.2914G>A (FANCI)	NP_001363839.1:p.Glu972Lys
NM_001376911.1:c.3193G>A (FANCI)	NP_001363840.1:p.Glu1065Lys
NM_018193.2:c.3013G>A (FANCI)	NP_060663.2:p.Glu1005Lys
NM_018193.3:c.3013G>A (FANCI)	NP_060663.2:p.Glu1005Lys
ENST00000300027.12:c.3013G>A (FANCI)	ENSP00000300027.8:p.Glu1005Lys
ENST00000310775.11:c.3193G>A (FANCI)	ENSP00000310842.7:p.Glu1065Lys
ENST00000447611.6:c.3013G>A (FANCI)	ENSP00000413249.2:p.Glu1005Lys
ENST00000561894.1:c.2492G>A (FANCI)
ENST00000565522.5:n.130-7557G>A (FANCI)
ENST00000566895.5:n.3200G>A (FANCI)
ENST00000635831.1:c.74-123C>T (POLG)
ENST00000674831.1:c.3193G>A (FANCI)	ENSP00000502474.1:p.Glu1065Lys
ENST00000676003.1:c.3151G>A (FANCI)	ENSP00000502254.1:p.Glu1051Lys
ENST00000696717.1:c.2914G>A (FANCI)	ENSP00000512830.1:p.Glu972Lys
ENST00000696718.1:c.2656G>A (FANCI)	ENSP00000512831.1:p.Glu886Lys
ENST00000696719.1:c.3193G>A (FANCI)	ENSP00000512832.1:p.Glu1065Lys
ENST00000696721.1:n.4778G>A (FANCI)
XM_011521756.1:c.3193G>A (FANCI)	XP_011520058.1:p.Glu1065Lys
XM_011521756.2:c.3193G>A (FANCI)	XP_011520058.1:p.Glu1065Lys
XM_011521757.1:c.3193G>A (FANCI)	XP_011520059.1:p.Glu1065Lys
XM_011521757.2:c.3193G>A (FANCI)	XP_011520059.1:p.Glu1065Lys
XM_011521758.1:c.3193G>A (FANCI)	XP_011520060.1:p.Glu1065Lys
XM_011521759.1:c.3193G>A (FANCI)	XP_011520061.1:p.Glu1065Lys
XM_011521760.1:c.3193G>A (FANCI)	XP_011520062.1:p.Glu1065Lys
XM_011521761.1:c.3193G>A (FANCI)	XP_011520063.1:p.Glu1065Lys
XM_011521762.1:c.3193G>A (FANCI)	XP_011520064.1:p.Glu1065Lys
XM_011521763.1:c.3151G>A (FANCI)	XP_011520065.1:p.Glu1051Lys
XM_011521764.1:c.3013G>A (FANCI)	XP_011520066.1:p.Glu1005Lys
XM_011521764.2:c.3013G>A (FANCI)	XP_011520066.1:p.Glu1005Lys
XM_011521765.1:c.2914G>A (FANCI)	XP_011520067.1:p.Glu972Lys
XM_011521766.1:c.2914G>A (FANCI)	XP_011520068.1:p.Glu972Lys
XM_011521767.1:c.2914G>A (FANCI)	XP_011520069.1:p.Glu972Lys
XM_011521767.2:c.2914G>A (FANCI)	XP_011520069.1:p.Glu972Lys
XM_011521768.1:c.3193G>A (FANCI)	XP_011520070.1:p.Glu1065Lys
XM_011521769.1:c.2848G>A (FANCI)	XP_011520071.1:p.Glu950Lys