Canonical Allele Identifier: CA7723913

Gene: FANCI POLG

Linked Data

• dbSNP Id: rs765781301
• ExAC: 15:89858465 C / T
• gnomAD v2: 15-89858465-C-T
• gnomAD v3: 15-89315234-C-T
• gnomAD v4: 15-89315234-C-T
• MyVariant Identifiers: chr15:g.89858465C>T (hg19) ; chr15:g.89315234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315234C>T , CM000677.2:g.89315234C>T	GRCh38
NC_000015.9:g.89858465C>T , CM000677.1:g.89858465C>T	GRCh37
NC_000015.8:g.87659469C>T	NCBI36
NG_008218.1:g.24562G>A
NG_011736.1:g.76272C>T , LRG_500:g.76272C>T
NG_008218.2:g.24562G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3538-48C>T (FANCI)	ENSP00000512830.1:n.3538-48C>T
ENST00000696718.1:c.3280-48C>T (FANCI)	ENSP00000512831.1:n.3280-48C>T
ENST00000696719.1:c.3817-48C>T (FANCI)	ENSP00000512832.1:n.3817-48C>T
ENST00000696721.1:n.5402-48C>T (FANCI)
ENST00000310775.12:c.3817-48C>T (FANCI) MANE Select	ENSP00000310842.8:n.3817-48C>T
ENST00000635831.1:c.73+1472G>A (POLG)
ENST00000674831.1:c.3949-48C>T (FANCI)	ENSP00000502474.1:n.3949-48C>T
ENST00000675352.1:n.3022-48C>T (FANCI)
ENST00000676003.1:c.3775-48C>T (FANCI)	ENSP00000502254.1:n.3775-48C>T
ENST00000676110.1:n.3398-48C>T (FANCI)
ENST00000300027.12:c.3637-48C>T (FANCI)	ENSP00000300027.8:n.3637-48C>T
ENST00000310775.11:c.3817-48C>T (FANCI)	ENSP00000310842.7:n.3817-48C>T
ENST00000447611.6:c.*161-48C>T (FANCI)	ENSP00000413249.2:n.*161-48C>T
ENST00000561894.1:c.3113-48C>T (FANCI)
ENST00000566615.1:n.400-48C>T (FANCI)
ENST00000566895.5:n.3824-48C>T (FANCI)
NM_001113378.1:c.3817-48C>T , LRG_500t1:c.3817-48C>T (FANCI)	NP_001106849.1:n.3817-48C>T
NM_018193.2:c.3637-48C>T (FANCI)	NP_060663.2:n.3637-48C>T
XM_011521756.1:c.3817-48C>T (FANCI)	XP_011520058.1:n.3817-48C>T
XM_011521757.1:c.3817-48C>T (FANCI)	XP_011520059.1:n.3817-48C>T
XM_011521758.1:c.3817-48C>T (FANCI)	XP_011520060.1:n.3817-48C>T
XM_011521759.1:c.3817-48C>T (FANCI)	XP_011520061.1:n.3817-48C>T
XM_011521760.1:c.3817-48C>T (FANCI)	XP_011520062.1:n.3817-48C>T
XM_011521761.1:c.3817-48C>T (FANCI)	XP_011520063.1:n.3817-48C>T
XM_011521762.1:c.3817-48C>T (FANCI)	XP_011520064.1:n.3817-48C>T
XM_011521763.1:c.3775-48C>T (FANCI)	XP_011520065.1:n.3775-48C>T
XM_011521764.1:c.3637-48C>T (FANCI)	XP_011520066.1:n.3637-48C>T
XM_011521765.1:c.3538-48C>T (FANCI)	XP_011520067.1:n.3538-48C>T
XM_011521766.1:c.3538-48C>T (FANCI)	XP_011520068.1:n.3538-48C>T
XM_011521767.1:c.3538-48C>T (FANCI)	XP_011520069.1:n.3538-48C>T
XM_011521769.1:c.3472-48C>T (FANCI)	XP_011520071.1:n.3472-48C>T
XM_011521756.2:c.3817-48C>T (FANCI)	XP_011520058.1:n.3817-48C>T
XM_011521757.2:c.3817-48C>T (FANCI)	XP_011520059.1:n.3817-48C>T
XM_011521764.2:c.3637-48C>T (FANCI)	XP_011520066.1:n.3637-48C>T
XM_011521767.2:c.3538-48C>T (FANCI)	XP_011520069.1:n.3538-48C>T
NM_001113378.2:c.3817-48C>T (FANCI) MANE Select	NP_001106849.1:n.3817-48C>T
NM_001376910.1:c.3538-48C>T (FANCI)	NP_001363839.1:n.3538-48C>T
NM_001376911.1:c.3817-48C>T (FANCI)	NP_001363840.1:n.3817-48C>T
NM_018193.3:c.3637-48C>T (FANCI)	NP_060663.2:n.3637-48C>T