Canonical Allele Identifier: CA393744774

Gene: FANCI POLG

Linked Data

• MyVariant Identifiers: chr15:g.89858565A>C (hg19) ; chr15:g.89315334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315334A>C , CM000677.2:g.89315334A>C	GRCh38
NC_000015.9:g.89858565A>C , CM000677.1:g.89858565A>C	GRCh37
NC_000015.8:g.87659569A>C	NCBI36
NG_008218.1:g.24462T>G
NG_011736.1:g.76372A>C , LRG_500:g.76372A>C
NG_008218.2:g.24462T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3590A>C (FANCI)	ENSP00000512830.1:p.Lys1197Thr
ENST00000696718.1:c.3332A>C (FANCI)	ENSP00000512831.1:p.Lys1111Thr
ENST00000696719.1:c.3869A>C (FANCI)	ENSP00000512832.1:p.Lys1290Thr
ENST00000696721.1:n.5454A>C (FANCI)
ENST00000310775.12:c.3869A>C (FANCI) MANE Select	ENSP00000310842.8:p.Lys1290Thr
ENST00000635831.1:c.73+1372T>G (POLG)
ENST00000674831.1:c.4001A>C (FANCI)	ENSP00000502474.1:p.Lys1334Thr
ENST00000675352.1:n.3074A>C (FANCI)
ENST00000676003.1:c.3827A>C (FANCI)	ENSP00000502254.1:p.Lys1276Thr
ENST00000676110.1:n.3450A>C (FANCI)
ENST00000300027.12:c.3689A>C (FANCI)	ENSP00000300027.8:p.Lys1230Thr
ENST00000310775.11:c.3869A>C (FANCI)	ENSP00000310842.7:p.Lys1290Thr
ENST00000447611.6:c.*213A>C (FANCI)	ENSP00000413249.2:n.*213A>C
ENST00000561894.1:c.3165A>C (FANCI)
ENST00000566615.1:n.452A>C (FANCI)
ENST00000566895.5:n.3876A>C (FANCI)
NM_001113378.1:c.3869A>C , LRG_500t1:c.3869A>C (FANCI)	NP_001106849.1:p.Lys1290Thr
NM_018193.2:c.3689A>C (FANCI)	NP_060663.2:p.Lys1230Thr
XM_011521756.1:c.3869A>C (FANCI)	XP_011520058.1:p.Lys1290Thr
XM_011521757.1:c.3869A>C (FANCI)	XP_011520059.1:p.Lys1290Thr
XM_011521758.1:c.3869A>C (FANCI)	XP_011520060.1:p.Lys1290Thr
XM_011521759.1:c.3869A>C (FANCI)	XP_011520061.1:p.Lys1290Thr
XM_011521760.1:c.3869A>C (FANCI)	XP_011520062.1:p.Lys1290Thr
XM_011521761.1:c.3869A>C (FANCI)	XP_011520063.1:p.Lys1290Thr
XM_011521762.1:c.3869A>C (FANCI)	XP_011520064.1:p.Lys1290Thr
XM_011521763.1:c.3827A>C (FANCI)	XP_011520065.1:p.Lys1276Thr
XM_011521764.1:c.3689A>C (FANCI)	XP_011520066.1:p.Lys1230Thr
XM_011521765.1:c.3590A>C (FANCI)	XP_011520067.1:p.Lys1197Thr
XM_011521766.1:c.3590A>C (FANCI)	XP_011520068.1:p.Lys1197Thr
XM_011521767.1:c.3590A>C (FANCI)	XP_011520069.1:p.Lys1197Thr
XM_011521769.1:c.3524A>C (FANCI)	XP_011520071.1:p.Lys1175Thr
XM_011521756.2:c.3869A>C (FANCI)	XP_011520058.1:p.Lys1290Thr
XM_011521757.2:c.3869A>C (FANCI)	XP_011520059.1:p.Lys1290Thr
XM_011521764.2:c.3689A>C (FANCI)	XP_011520066.1:p.Lys1230Thr
XM_011521767.2:c.3590A>C (FANCI)	XP_011520069.1:p.Lys1197Thr
NM_001113378.2:c.3869A>C (FANCI) MANE Select	NP_001106849.1:p.Lys1290Thr
NM_001376910.1:c.3590A>C (FANCI)	NP_001363839.1:p.Lys1197Thr
NM_001376911.1:c.3869A>C (FANCI)	NP_001363840.1:p.Lys1290Thr
NM_018193.3:c.3689A>C (FANCI)	NP_060663.2:p.Lys1230Thr