Canonical Allele Identifier: CA393744731

Gene: FANCI POLG

Linked Data

• MyVariant Identifiers: chr15:g.89858558A>T (hg19) ; chr15:g.89315327A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89315327A>T , CM000677.2:g.89315327A>T	GRCh38
NC_000015.9:g.89858558A>T , CM000677.1:g.89858558A>T	GRCh37
NC_000015.8:g.87659562A>T	NCBI36
NG_008218.1:g.24469T>A
NG_011736.1:g.76365A>T , LRG_500:g.76365A>T
NG_008218.2:g.24469T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696717.1:c.3583A>T (FANCI)	ENSP00000512830.1:p.Lys1195Ter
ENST00000696718.1:c.3325A>T (FANCI)	ENSP00000512831.1:p.Lys1109Ter
ENST00000696719.1:c.3862A>T (FANCI)	ENSP00000512832.1:p.Lys1288Ter
ENST00000696721.1:n.5447A>T (FANCI)
ENST00000310775.12:c.3862A>T (FANCI) MANE Select	ENSP00000310842.8:p.Lys1288Ter
ENST00000635831.1:c.73+1379T>A (POLG)
ENST00000674831.1:c.3994A>T (FANCI)	ENSP00000502474.1:p.Lys1332Ter
ENST00000675352.1:n.3067A>T (FANCI)
ENST00000676003.1:c.3820A>T (FANCI)	ENSP00000502254.1:p.Lys1274Ter
ENST00000676110.1:n.3443A>T (FANCI)
ENST00000300027.12:c.3682A>T (FANCI)	ENSP00000300027.8:p.Lys1228Ter
ENST00000310775.11:c.3862A>T (FANCI)	ENSP00000310842.7:p.Lys1288Ter
ENST00000447611.6:c.*206A>T (FANCI)	ENSP00000413249.2:n.*206A>T
ENST00000561894.1:c.3158A>T (FANCI)
ENST00000566615.1:n.445A>T (FANCI)
ENST00000566895.5:n.3869A>T (FANCI)
NM_001113378.1:c.3862A>T , LRG_500t1:c.3862A>T (FANCI)	NP_001106849.1:p.Lys1288Ter
NM_018193.2:c.3682A>T (FANCI)	NP_060663.2:p.Lys1228Ter
XM_011521756.1:c.3862A>T (FANCI)	XP_011520058.1:p.Lys1288Ter
XM_011521757.1:c.3862A>T (FANCI)	XP_011520059.1:p.Lys1288Ter
XM_011521758.1:c.3862A>T (FANCI)	XP_011520060.1:p.Lys1288Ter
XM_011521759.1:c.3862A>T (FANCI)	XP_011520061.1:p.Lys1288Ter
XM_011521760.1:c.3862A>T (FANCI)	XP_011520062.1:p.Lys1288Ter
XM_011521761.1:c.3862A>T (FANCI)	XP_011520063.1:p.Lys1288Ter
XM_011521762.1:c.3862A>T (FANCI)	XP_011520064.1:p.Lys1288Ter
XM_011521763.1:c.3820A>T (FANCI)	XP_011520065.1:p.Lys1274Ter
XM_011521764.1:c.3682A>T (FANCI)	XP_011520066.1:p.Lys1228Ter
XM_011521765.1:c.3583A>T (FANCI)	XP_011520067.1:p.Lys1195Ter
XM_011521766.1:c.3583A>T (FANCI)	XP_011520068.1:p.Lys1195Ter
XM_011521767.1:c.3583A>T (FANCI)	XP_011520069.1:p.Lys1195Ter
XM_011521769.1:c.3517A>T (FANCI)	XP_011520071.1:p.Lys1173Ter
XM_011521756.2:c.3862A>T (FANCI)	XP_011520058.1:p.Lys1288Ter
XM_011521757.2:c.3862A>T (FANCI)	XP_011520059.1:p.Lys1288Ter
XM_011521764.2:c.3682A>T (FANCI)	XP_011520066.1:p.Lys1228Ter
XM_011521767.2:c.3583A>T (FANCI)	XP_011520069.1:p.Lys1195Ter
NM_001113378.2:c.3862A>T (FANCI) MANE Select	NP_001106849.1:p.Lys1288Ter
NM_001376910.1:c.3583A>T (FANCI)	NP_001363839.1:p.Lys1195Ter
NM_001376911.1:c.3862A>T (FANCI)	NP_001363840.1:p.Lys1288Ter
NM_018193.3:c.3682A>T (FANCI)	NP_060663.2:p.Lys1228Ter