Canonical Allele Identifier: CA16614937

Gene: FANCI POLG

Linked Data

• ClinVar Variation Id: 408248
• ClinVar RCV Id: RCV000467025
• dbSNP Id: rs1060501900
• COSMIC: COSM5961571 ; COSM5961572
• MyVariant Identifiers: chr15:g.89857902T>A (hg19) ; chr15:g.89314671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89314671T>A , CM000677.2:g.89314671T>A	GRCh38
NC_000015.9:g.89857902T>A , CM000677.1:g.89857902T>A	GRCh37
NC_000015.8:g.87658906T>A	NCBI36
NG_008218.1:g.25125A>T
NG_011736.1:g.75709T>A , LRG_500:g.75709T>A
NG_008218.2:g.25125A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.3501T>A (FANCI)	ENSP00000512830.1:p.Tyr1167Ter
ENST00000696718.1:c.3243T>A (FANCI)	ENSP00000512831.1:p.Tyr1081Ter
ENST00000696719.1:c.3780T>A (FANCI)	ENSP00000512832.1:p.Tyr1260Ter
ENST00000696721.1:n.5365T>A (FANCI)
ENST00000310775.12:c.3780T>A (FANCI) MANE Select	ENSP00000310842.8:p.Tyr1260Ter
ENST00000635831.1:c.73+2035A>T (POLG)
ENST00000674831.1:c.3912T>A (FANCI)	ENSP00000502474.1:p.Tyr1304Ter
ENST00000675352.1:n.2985T>A (FANCI)
ENST00000676003.1:c.3738T>A (FANCI)	ENSP00000502254.1:p.Tyr1246Ter
ENST00000676110.1:n.3361T>A (FANCI)
ENST00000300027.12:c.3600T>A (FANCI)	ENSP00000300027.8:p.Tyr1200Ter
ENST00000310775.11:c.3780T>A (FANCI)	ENSP00000310842.7:p.Tyr1260Ter
ENST00000447611.6:c.*124T>A (FANCI)	ENSP00000413249.2:n.*124T>A
ENST00000561894.1:c.3076T>A (FANCI)
ENST00000566615.1:n.363T>A (FANCI)
ENST00000566895.5:n.3787T>A (FANCI)
NM_001113378.1:c.3780T>A , LRG_500t1:c.3780T>A (FANCI)	NP_001106849.1:p.Tyr1260Ter
NM_018193.2:c.3600T>A (FANCI)	NP_060663.2:p.Tyr1200Ter
XM_011521756.1:c.3780T>A (FANCI)	XP_011520058.1:p.Tyr1260Ter
XM_011521757.1:c.3780T>A (FANCI)	XP_011520059.1:p.Tyr1260Ter
XM_011521758.1:c.3780T>A (FANCI)	XP_011520060.1:p.Tyr1260Ter
XM_011521759.1:c.3780T>A (FANCI)	XP_011520061.1:p.Tyr1260Ter
XM_011521760.1:c.3780T>A (FANCI)	XP_011520062.1:p.Tyr1260Ter
XM_011521761.1:c.3780T>A (FANCI)	XP_011520063.1:p.Tyr1260Ter
XM_011521762.1:c.3780T>A (FANCI)	XP_011520064.1:p.Tyr1260Ter
XM_011521763.1:c.3738T>A (FANCI)	XP_011520065.1:p.Tyr1246Ter
XM_011521764.1:c.3600T>A (FANCI)	XP_011520066.1:p.Tyr1200Ter
XM_011521765.1:c.3501T>A (FANCI)	XP_011520067.1:p.Tyr1167Ter
XM_011521766.1:c.3501T>A (FANCI)	XP_011520068.1:p.Tyr1167Ter
XM_011521767.1:c.3501T>A (FANCI)	XP_011520069.1:p.Tyr1167Ter
XM_011521769.1:c.3435T>A (FANCI)	XP_011520071.1:p.Tyr1145Ter
XM_011521756.2:c.3780T>A (FANCI)	XP_011520058.1:p.Tyr1260Ter
XM_011521757.2:c.3780T>A (FANCI)	XP_011520059.1:p.Tyr1260Ter
XM_011521764.2:c.3600T>A (FANCI)	XP_011520066.1:p.Tyr1200Ter
XM_011521767.2:c.3501T>A (FANCI)	XP_011520069.1:p.Tyr1167Ter
NM_001113378.2:c.3780T>A (FANCI) MANE Select	NP_001106849.1:p.Tyr1260Ter
NM_001376910.1:c.3501T>A (FANCI)	NP_001363839.1:p.Tyr1167Ter
NM_001376911.1:c.3780T>A (FANCI)	NP_001363840.1:p.Tyr1260Ter
NM_018193.3:c.3600T>A (FANCI)	NP_060663.2:p.Tyr1200Ter