Canonical Allele Identifier: CA274525980

Gene: FANCI POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89306068A>G , CM000677.2:g.89306068A>G	GRCh38
NC_000015.9:g.89849299A>G , CM000677.1:g.89849299A>G	GRCh37
NC_000015.8:g.87650303A>G	NCBI36
NG_011736.1:g.67106A>G , LRG_500:g.67106A>G
NG_008218.2:g.33728T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.3411A>G (FANCI) MANE Select	NP_001106849.1:p.Gln1137=
ENST00000310775.12:c.3411A>G (FANCI) MANE Select	ENSP00000310842.8:p.Gln1137=
NM_001113378.1:c.3411A>G , LRG_500t1:c.3411A>G (FANCI)	NP_001106849.1:p.Gln1137=
NM_001376910.1:c.3132A>G (FANCI)	NP_001363839.1:p.Gln1044=
NM_001376911.1:c.3411A>G (FANCI)	NP_001363840.1:p.Gln1137=
NM_018193.2:c.3231A>G (FANCI)	NP_060663.2:p.Gln1077=
NM_018193.3:c.3231A>G (FANCI)	NP_060663.2:p.Gln1077=
ENST00000300027.12:c.3231A>G (FANCI)	ENSP00000300027.8:p.Gln1077=
ENST00000310775.11:c.3411A>G (FANCI)	ENSP00000310842.7:p.Gln1137=
ENST00000447611.6:c.3169+370A>G (FANCI)	ENSP00000413249.2:n.3169+370A>G
ENST00000561894.1:c.2707A>G (FANCI)
ENST00000565522.5:n.130-6836A>G (FANCI)
ENST00000566895.5:n.3418A>G (FANCI)
ENST00000635831.1:c.74-844T>C (POLG)
ENST00000674831.1:c.3411A>G (FANCI)	ENSP00000502474.1:p.Gln1137=
ENST00000676003.1:c.3369A>G (FANCI)	ENSP00000502254.1:p.Gln1123=
ENST00000696717.1:c.3132A>G (FANCI)	ENSP00000512830.1:p.Gln1044=
ENST00000696718.1:c.2874A>G (FANCI)	ENSP00000512831.1:p.Gln958=
ENST00000696719.1:c.3411A>G (FANCI)	ENSP00000512832.1:p.Gln1137=
ENST00000696721.1:n.4996A>G (FANCI)
XM_011521756.1:c.3411A>G (FANCI)	XP_011520058.1:p.Gln1137=
XM_011521756.2:c.3411A>G (FANCI)	XP_011520058.1:p.Gln1137=
XM_011521757.1:c.3411A>G (FANCI)	XP_011520059.1:p.Gln1137=
XM_011521757.2:c.3411A>G (FANCI)	XP_011520059.1:p.Gln1137=
XM_011521758.1:c.3411A>G (FANCI)	XP_011520060.1:p.Gln1137=
XM_011521759.1:c.3411A>G (FANCI)	XP_011520061.1:p.Gln1137=
XM_011521760.1:c.3411A>G (FANCI)	XP_011520062.1:p.Gln1137=
XM_011521761.1:c.3411A>G (FANCI)	XP_011520063.1:p.Gln1137=
XM_011521762.1:c.3411A>G (FANCI)	XP_011520064.1:p.Gln1137=
XM_011521763.1:c.3369A>G (FANCI)	XP_011520065.1:p.Gln1123=
XM_011521764.1:c.3231A>G (FANCI)	XP_011520066.1:p.Gln1077=
XM_011521764.2:c.3231A>G (FANCI)	XP_011520066.1:p.Gln1077=
XM_011521765.1:c.3132A>G (FANCI)	XP_011520067.1:p.Gln1044=
XM_011521766.1:c.3132A>G (FANCI)	XP_011520068.1:p.Gln1044=
XM_011521767.1:c.3132A>G (FANCI)	XP_011520069.1:p.Gln1044=
XM_011521767.2:c.3132A>G (FANCI)	XP_011520069.1:p.Gln1044=
XM_011521768.1:c.3411A>G (FANCI)	XP_011520070.1:p.Gln1137=
XM_011521769.1:c.3066A>G (FANCI)	XP_011520071.1:p.Gln1022=