Canonical Allele Identifier: CA7723914

Gene: FANCI POLG

Linked Data

• dbSNP Id: rs775662971
• ExAC: 15:89858470 C / G
• gnomAD v2: 15-89858470-C-G
• gnomAD v4: 15-89315239-C-G
• MyVariant Identifiers: chr15:g.89858470C>G (hg19) ; chr15:g.89315239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315239C>G , CM000677.2:g.89315239C>G	GRCh38
NC_000015.9:g.89858470C>G , CM000677.1:g.89858470C>G	GRCh37
NC_000015.8:g.87659474C>G	NCBI36
NG_008218.1:g.24557G>C
NG_011736.1:g.76277C>G , LRG_500:g.76277C>G
NG_008218.2:g.24557G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3538-43C>G (FANCI)	ENSP00000512830.1:n.3538-43C>G
ENST00000696718.1:c.3280-43C>G (FANCI)	ENSP00000512831.1:n.3280-43C>G
ENST00000696719.1:c.3817-43C>G (FANCI)	ENSP00000512832.1:n.3817-43C>G
ENST00000696721.1:n.5402-43C>G (FANCI)
ENST00000310775.12:c.3817-43C>G (FANCI) MANE Select	ENSP00000310842.8:n.3817-43C>G
ENST00000635831.1:c.73+1467G>C (POLG)
ENST00000674831.1:c.3949-43C>G (FANCI)	ENSP00000502474.1:n.3949-43C>G
ENST00000675352.1:n.3022-43C>G (FANCI)
ENST00000676003.1:c.3775-43C>G (FANCI)	ENSP00000502254.1:n.3775-43C>G
ENST00000676110.1:n.3398-43C>G (FANCI)
ENST00000300027.12:c.3637-43C>G (FANCI)	ENSP00000300027.8:n.3637-43C>G
ENST00000310775.11:c.3817-43C>G (FANCI)	ENSP00000310842.7:n.3817-43C>G
ENST00000447611.6:c.*161-43C>G (FANCI)	ENSP00000413249.2:n.*161-43C>G
ENST00000561894.1:c.3113-43C>G (FANCI)
ENST00000566615.1:n.400-43C>G (FANCI)
ENST00000566895.5:n.3824-43C>G (FANCI)
NM_001113378.1:c.3817-43C>G , LRG_500t1:c.3817-43C>G (FANCI)	NP_001106849.1:n.3817-43C>G
NM_018193.2:c.3637-43C>G (FANCI)	NP_060663.2:n.3637-43C>G
XM_011521756.1:c.3817-43C>G (FANCI)	XP_011520058.1:n.3817-43C>G
XM_011521757.1:c.3817-43C>G (FANCI)	XP_011520059.1:n.3817-43C>G
XM_011521758.1:c.3817-43C>G (FANCI)	XP_011520060.1:n.3817-43C>G
XM_011521759.1:c.3817-43C>G (FANCI)	XP_011520061.1:n.3817-43C>G
XM_011521760.1:c.3817-43C>G (FANCI)	XP_011520062.1:n.3817-43C>G
XM_011521761.1:c.3817-43C>G (FANCI)	XP_011520063.1:n.3817-43C>G
XM_011521762.1:c.3817-43C>G (FANCI)	XP_011520064.1:n.3817-43C>G
XM_011521763.1:c.3775-43C>G (FANCI)	XP_011520065.1:n.3775-43C>G
XM_011521764.1:c.3637-43C>G (FANCI)	XP_011520066.1:n.3637-43C>G
XM_011521765.1:c.3538-43C>G (FANCI)	XP_011520067.1:n.3538-43C>G
XM_011521766.1:c.3538-43C>G (FANCI)	XP_011520068.1:n.3538-43C>G
XM_011521767.1:c.3538-43C>G (FANCI)	XP_011520069.1:n.3538-43C>G
XM_011521769.1:c.3472-43C>G (FANCI)	XP_011520071.1:n.3472-43C>G
XM_011521756.2:c.3817-43C>G (FANCI)	XP_011520058.1:n.3817-43C>G
XM_011521757.2:c.3817-43C>G (FANCI)	XP_011520059.1:n.3817-43C>G
XM_011521764.2:c.3637-43C>G (FANCI)	XP_011520066.1:n.3637-43C>G
XM_011521767.2:c.3538-43C>G (FANCI)	XP_011520069.1:n.3538-43C>G
NM_001113378.2:c.3817-43C>G (FANCI) MANE Select	NP_001106849.1:n.3817-43C>G
NM_001376910.1:c.3538-43C>G (FANCI)	NP_001363839.1:n.3538-43C>G
NM_001376911.1:c.3817-43C>G (FANCI)	NP_001363840.1:n.3817-43C>G
NM_018193.3:c.3637-43C>G (FANCI)	NP_060663.2:n.3637-43C>G