Canonical Allele Identifier: CA393744807

Gene: FANCI POLG

Linked Data

• gnomAD v4: 15-89315340-A-T
• MyVariant Identifiers: chr15:g.89858571A>T (hg19) ; chr15:g.89315340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315340A>T , CM000677.2:g.89315340A>T	GRCh38
NC_000015.9:g.89858571A>T , CM000677.1:g.89858571A>T	GRCh37
NC_000015.8:g.87659575A>T	NCBI36
NG_008218.1:g.24456T>A
NG_011736.1:g.76378A>T , LRG_500:g.76378A>T
NG_008218.2:g.24456T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3596A>T (FANCI)	ENSP00000512830.1:p.Asn1199Ile
ENST00000696718.1:c.3338A>T (FANCI)	ENSP00000512831.1:p.Asn1113Ile
ENST00000696719.1:c.3875A>T (FANCI)	ENSP00000512832.1:p.Asn1292Ile
ENST00000696721.1:n.5460A>T (FANCI)
ENST00000310775.12:c.3875A>T (FANCI) MANE Select	ENSP00000310842.8:p.Asn1292Ile
ENST00000635831.1:c.73+1366T>A (POLG)
ENST00000674831.1:c.4007A>T (FANCI)	ENSP00000502474.1:p.Asn1336Ile
ENST00000675352.1:n.3080A>T (FANCI)
ENST00000676003.1:c.3833A>T (FANCI)	ENSP00000502254.1:p.Asn1278Ile
ENST00000676110.1:n.3456A>T (FANCI)
ENST00000300027.12:c.3695A>T (FANCI)	ENSP00000300027.8:p.Asn1232Ile
ENST00000310775.11:c.3875A>T (FANCI)	ENSP00000310842.7:p.Asn1292Ile
ENST00000447611.6:c.*219A>T (FANCI)	ENSP00000413249.2:n.*219A>T
ENST00000561894.1:c.3171A>T (FANCI)
ENST00000566615.1:n.458A>T (FANCI)
ENST00000566895.5:n.3882A>T (FANCI)
NM_001113378.1:c.3875A>T , LRG_500t1:c.3875A>T (FANCI)	NP_001106849.1:p.Asn1292Ile
NM_018193.2:c.3695A>T (FANCI)	NP_060663.2:p.Asn1232Ile
XM_011521756.1:c.3875A>T (FANCI)	XP_011520058.1:p.Asn1292Ile
XM_011521757.1:c.3875A>T (FANCI)	XP_011520059.1:p.Asn1292Ile
XM_011521758.1:c.3875A>T (FANCI)	XP_011520060.1:p.Asn1292Ile
XM_011521759.1:c.3875A>T (FANCI)	XP_011520061.1:p.Asn1292Ile
XM_011521760.1:c.3875A>T (FANCI)	XP_011520062.1:p.Asn1292Ile
XM_011521761.1:c.3875A>T (FANCI)	XP_011520063.1:p.Asn1292Ile
XM_011521762.1:c.3875A>T (FANCI)	XP_011520064.1:p.Asn1292Ile
XM_011521763.1:c.3833A>T (FANCI)	XP_011520065.1:p.Asn1278Ile
XM_011521764.1:c.3695A>T (FANCI)	XP_011520066.1:p.Asn1232Ile
XM_011521765.1:c.3596A>T (FANCI)	XP_011520067.1:p.Asn1199Ile
XM_011521766.1:c.3596A>T (FANCI)	XP_011520068.1:p.Asn1199Ile
XM_011521767.1:c.3596A>T (FANCI)	XP_011520069.1:p.Asn1199Ile
XM_011521769.1:c.3530A>T (FANCI)	XP_011520071.1:p.Asn1177Ile
XM_011521756.2:c.3875A>T (FANCI)	XP_011520058.1:p.Asn1292Ile
XM_011521757.2:c.3875A>T (FANCI)	XP_011520059.1:p.Asn1292Ile
XM_011521764.2:c.3695A>T (FANCI)	XP_011520066.1:p.Asn1232Ile
XM_011521767.2:c.3596A>T (FANCI)	XP_011520069.1:p.Asn1199Ile
NM_001113378.2:c.3875A>T (FANCI) MANE Select	NP_001106849.1:p.Asn1292Ile
NM_001376910.1:c.3596A>T (FANCI)	NP_001363839.1:p.Asn1199Ile
NM_001376911.1:c.3875A>T (FANCI)	NP_001363840.1:p.Asn1292Ile
NM_018193.3:c.3695A>T (FANCI)	NP_060663.2:p.Asn1232Ile