Canonical Allele Identifier: CA393744735

Gene: FANCI POLG

Linked Data

• dbSNP Id: rs2055185271
• gnomAD v4: 15-89315328-A-G
• MyVariant Identifiers: chr15:g.89858559A>G (hg19) ; chr15:g.89315328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315328A>G , CM000677.2:g.89315328A>G	GRCh38
NC_000015.9:g.89858559A>G , CM000677.1:g.89858559A>G	GRCh37
NC_000015.8:g.87659563A>G	NCBI36
NG_008218.1:g.24468T>C
NG_011736.1:g.76366A>G , LRG_500:g.76366A>G
NG_008218.2:g.24468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3584A>G (FANCI)	ENSP00000512830.1:p.Lys1195Arg
ENST00000696718.1:c.3326A>G (FANCI)	ENSP00000512831.1:p.Lys1109Arg
ENST00000696719.1:c.3863A>G (FANCI)	ENSP00000512832.1:p.Lys1288Arg
ENST00000696721.1:n.5448A>G (FANCI)
ENST00000310775.12:c.3863A>G (FANCI) MANE Select	ENSP00000310842.8:p.Lys1288Arg
ENST00000635831.1:c.73+1378T>C (POLG)
ENST00000674831.1:c.3995A>G (FANCI)	ENSP00000502474.1:p.Lys1332Arg
ENST00000675352.1:n.3068A>G (FANCI)
ENST00000676003.1:c.3821A>G (FANCI)	ENSP00000502254.1:p.Lys1274Arg
ENST00000676110.1:n.3444A>G (FANCI)
ENST00000300027.12:c.3683A>G (FANCI)	ENSP00000300027.8:p.Lys1228Arg
ENST00000310775.11:c.3863A>G (FANCI)	ENSP00000310842.7:p.Lys1288Arg
ENST00000447611.6:c.*207A>G (FANCI)	ENSP00000413249.2:n.*207A>G
ENST00000561894.1:c.3159A>G (FANCI)
ENST00000566615.1:n.446A>G (FANCI)
ENST00000566895.5:n.3870A>G (FANCI)
NM_001113378.1:c.3863A>G , LRG_500t1:c.3863A>G (FANCI)	NP_001106849.1:p.Lys1288Arg
NM_018193.2:c.3683A>G (FANCI)	NP_060663.2:p.Lys1228Arg
XM_011521756.1:c.3863A>G (FANCI)	XP_011520058.1:p.Lys1288Arg
XM_011521757.1:c.3863A>G (FANCI)	XP_011520059.1:p.Lys1288Arg
XM_011521758.1:c.3863A>G (FANCI)	XP_011520060.1:p.Lys1288Arg
XM_011521759.1:c.3863A>G (FANCI)	XP_011520061.1:p.Lys1288Arg
XM_011521760.1:c.3863A>G (FANCI)	XP_011520062.1:p.Lys1288Arg
XM_011521761.1:c.3863A>G (FANCI)	XP_011520063.1:p.Lys1288Arg
XM_011521762.1:c.3863A>G (FANCI)	XP_011520064.1:p.Lys1288Arg
XM_011521763.1:c.3821A>G (FANCI)	XP_011520065.1:p.Lys1274Arg
XM_011521764.1:c.3683A>G (FANCI)	XP_011520066.1:p.Lys1228Arg
XM_011521765.1:c.3584A>G (FANCI)	XP_011520067.1:p.Lys1195Arg
XM_011521766.1:c.3584A>G (FANCI)	XP_011520068.1:p.Lys1195Arg
XM_011521767.1:c.3584A>G (FANCI)	XP_011520069.1:p.Lys1195Arg
XM_011521769.1:c.3518A>G (FANCI)	XP_011520071.1:p.Lys1173Arg
XM_011521756.2:c.3863A>G (FANCI)	XP_011520058.1:p.Lys1288Arg
XM_011521757.2:c.3863A>G (FANCI)	XP_011520059.1:p.Lys1288Arg
XM_011521764.2:c.3683A>G (FANCI)	XP_011520066.1:p.Lys1228Arg
XM_011521767.2:c.3584A>G (FANCI)	XP_011520069.1:p.Lys1195Arg
NM_001113378.2:c.3863A>G (FANCI) MANE Select	NP_001106849.1:p.Lys1288Arg
NM_001376910.1:c.3584A>G (FANCI)	NP_001363839.1:p.Lys1195Arg
NM_001376911.1:c.3863A>G (FANCI)	NP_001363840.1:p.Lys1288Arg
NM_018193.3:c.3683A>G (FANCI)	NP_060663.2:p.Lys1228Arg