Canonical Allele Identifier: CA350361

Gene: FANCI POLG

Linked Data

• ClinVar Variation Id: 221079
• ClinVar RCV Id: RCV000206316
• dbSNP Id: rs864622739
• MyVariant Identifiers: chr15:g.89858621G>A (hg19) ; chr15:g.89315390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315390G>A , CM000677.2:g.89315390G>A	GRCh38
NC_000015.9:g.89858621G>A , CM000677.1:g.89858621G>A	GRCh37
NC_000015.8:g.87659625G>A	NCBI36
NG_008218.1:g.24406C>T
NG_011736.1:g.76428G>A , LRG_500:g.76428G>A
NG_008218.2:g.24406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3645+1G>A (FANCI)	ENSP00000512830.1:n.3645+1G>A
ENST00000696718.1:c.3387+1G>A (FANCI)	ENSP00000512831.1:n.3387+1G>A
ENST00000696719.1:c.3924+1G>A (FANCI)	ENSP00000512832.1:n.3924+1G>A
ENST00000696721.1:n.5509+1G>A (FANCI)
ENST00000310775.12:c.3924+1G>A (FANCI) MANE Select	ENSP00000310842.8:n.3924+1G>A
ENST00000635831.1:c.73+1316C>T (POLG)
ENST00000674831.1:c.4056+1G>A (FANCI)	ENSP00000502474.1:n.4056+1G>A
ENST00000675352.1:n.3129+1G>A (FANCI)
ENST00000676003.1:c.3882+1G>A (FANCI)	ENSP00000502254.1:n.3882+1G>A
ENST00000676110.1:n.3505+1G>A (FANCI)
ENST00000300027.12:c.3744+1G>A (FANCI)	ENSP00000300027.8:n.3744+1G>A
ENST00000310775.11:c.3924+1G>A (FANCI)	ENSP00000310842.7:n.3924+1G>A
ENST00000447611.6:c.*268+1G>A (FANCI)	ENSP00000413249.2:n.*268+1G>A
ENST00000561894.1:c.3220+1G>A (FANCI)
ENST00000566615.1:n.507+1G>A (FANCI)
ENST00000566895.5:n.3931+1G>A (FANCI)
NM_001113378.1:c.3924+1G>A , LRG_500t1:c.3924+1G>A (FANCI)	NP_001106849.1:n.3924+1G>A
NM_018193.2:c.3744+1G>A (FANCI)	NP_060663.2:n.3744+1G>A
XM_011521756.1:c.3924+1G>A (FANCI)	XP_011520058.1:n.3924+1G>A
XM_011521757.1:c.3924+1G>A (FANCI)	XP_011520059.1:n.3924+1G>A
XM_011521758.1:c.3924+1G>A (FANCI)	XP_011520060.1:n.3924+1G>A
XM_011521759.1:c.3924+1G>A (FANCI)	XP_011520061.1:n.3924+1G>A
XM_011521760.1:c.3924+1G>A (FANCI)	XP_011520062.1:n.3924+1G>A
XM_011521761.1:c.3924+1G>A (FANCI)	XP_011520063.1:n.3924+1G>A
XM_011521762.1:c.3924+1G>A (FANCI)	XP_011520064.1:n.3924+1G>A
XM_011521763.1:c.3882+1G>A (FANCI)	XP_011520065.1:n.3882+1G>A
XM_011521764.1:c.3744+1G>A (FANCI)	XP_011520066.1:n.3744+1G>A
XM_011521765.1:c.3645+1G>A (FANCI)	XP_011520067.1:n.3645+1G>A
XM_011521766.1:c.3645+1G>A (FANCI)	XP_011520068.1:n.3645+1G>A
XM_011521767.1:c.3645+1G>A (FANCI)	XP_011520069.1:n.3645+1G>A
XM_011521769.1:c.3579+1G>A (FANCI)	XP_011520071.1:n.3579+1G>A
XM_011521756.2:c.3924+1G>A (FANCI)	XP_011520058.1:n.3924+1G>A
XM_011521757.2:c.3924+1G>A (FANCI)	XP_011520059.1:n.3924+1G>A
XM_011521764.2:c.3744+1G>A (FANCI)	XP_011520066.1:n.3744+1G>A
XM_011521767.2:c.3645+1G>A (FANCI)	XP_011520069.1:n.3645+1G>A
NM_001113378.2:c.3924+1G>A (FANCI) MANE Select	NP_001106849.1:n.3924+1G>A
NM_001376910.1:c.3645+1G>A (FANCI)	NP_001363839.1:n.3645+1G>A
NM_001376911.1:c.3924+1G>A (FANCI)	NP_001363840.1:n.3924+1G>A
NM_018193.3:c.3744+1G>A (FANCI)	NP_060663.2:n.3744+1G>A