Canonical Allele Identifier: CA393746365

Gene: POLG FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89859640G>A (hg19) ; chr15:g.89316409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316409G>A , CM000677.2:g.89316409G>A	GRCh38
NC_000015.9:g.89859640G>A , CM000677.1:g.89859640G>A	GRCh37
NC_000015.8:g.87660644G>A	NCBI36
NG_008218.1:g.23387C>T
NG_011736.1:g.77447G>A , LRG_500:g.77447G>A
NG_008218.2:g.23387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*342C>T (POLG)	ENSP00000516154.1:n.*342C>T
ENST00000696717.1:c.3658G>A (FANCI)	ENSP00000512830.1:p.Glu1220Lys
ENST00000696718.1:c.3400G>A (FANCI)	ENSP00000512831.1:p.Glu1134Lys
ENST00000696719.1:c.3937G>A (FANCI)	ENSP00000512832.1:p.Glu1313Lys
ENST00000696721.1:n.5522G>A (FANCI)
ENST00000268124.11:c.*342C>T (POLG) MANE Select	ENSP00000268124.5:n.*342C>T
ENST00000310775.12:c.3937G>A (FANCI) MANE Select	ENSP00000310842.8:p.Glu1313Lys
ENST00000530292.3:c.3762C>T (POLG)	ENSP00000432885.2:n.3762C>T
ENST00000635831.1:c.73+297C>T (POLG)
ENST00000635986.2:c.*1132C>T (POLG)	ENSP00000490653.2:n.*1132C>T
ENST00000637238.1:c.2970C>T (POLG)	ENSP00000490756.1:n.2970C>T
ENST00000637264.1:c.3074C>T (POLG)
ENST00000666746.1:c.3639C>T (POLG)
ENST00000672071.1:n.5264C>T (POLG)
ENST00000672695.1:n.1841C>T (POLG)
ENST00000672923.2:n.4062C>T (POLG)
ENST00000674831.1:c.4069G>A (FANCI)	ENSP00000502474.1:p.Glu1357Lys
ENST00000675352.1:n.3142G>A (FANCI)
ENST00000676003.1:c.3895G>A (FANCI)	ENSP00000502254.1:p.Glu1299Lys
ENST00000676110.1:n.3518G>A (FANCI)
ENST00000268124.9:c.*342C>T (POLG)	ENSP00000268124.5:n.*342C>T
ENST00000300027.12:c.3757G>A (FANCI)	ENSP00000300027.8:p.Glu1253Lys
ENST00000310775.11:c.3937G>A (FANCI)	ENSP00000310842.7:p.Glu1313Lys
ENST00000442287.6:c.*342C>T (POLG)	ENSP00000399851.2:n.*342C>T
ENST00000447611.6:c.*281G>A (FANCI)	ENSP00000413249.2:n.*281G>A
ENST00000530292.2:c.1245C>T (POLG)	ENSP00000432885.1:n.1245C>T
ENST00000561894.1:c.3233G>A (FANCI)
ENST00000566615.1:n.520G>A (FANCI)
ENST00000566895.5:n.3944G>A (FANCI)
ENST00000631044.2:c.*3486C>T (POLG)	ENSP00000486730.1:n.*3486C>T
NM_001113378.1:c.3937G>A , LRG_500t1:c.3937G>A (FANCI)	NP_001106849.1:p.Glu1313Lys
NM_001126131.1:c.*342C>T (POLG)	NP_001119603.1:n.*342C>T
NM_002693.2:c.*342C>T (POLG)	NP_002684.1:n.*342C>T
NM_018193.2:c.3757G>A (FANCI)	NP_060663.2:p.Glu1253Lys
XM_011521756.1:c.3937G>A (FANCI)	XP_011520058.1:p.Glu1313Lys
XM_011521757.1:c.3937G>A (FANCI)	XP_011520059.1:p.Glu1313Lys
XM_011521758.1:c.3937G>A (FANCI)	XP_011520060.1:p.Glu1313Lys
XM_011521759.1:c.3937G>A (FANCI)	XP_011520061.1:p.Glu1313Lys
XM_011521760.1:c.3937G>A (FANCI)	XP_011520062.1:p.Glu1313Lys
XM_011521761.1:c.3937G>A (FANCI)	XP_011520063.1:p.Glu1313Lys
XM_011521762.1:c.3937G>A (FANCI)	XP_011520064.1:p.Glu1313Lys
XM_011521763.1:c.3895G>A (FANCI)	XP_011520065.1:p.Glu1299Lys
XM_011521764.1:c.3757G>A (FANCI)	XP_011520066.1:p.Glu1253Lys
XM_011521765.1:c.3658G>A (FANCI)	XP_011520067.1:p.Glu1220Lys
XM_011521766.1:c.3658G>A (FANCI)	XP_011520068.1:p.Glu1220Lys
XM_011521767.1:c.3658G>A (FANCI)	XP_011520069.1:p.Glu1220Lys
XM_011521769.1:c.3592G>A (FANCI)	XP_011520071.1:p.Glu1198Lys
XM_011521756.2:c.3937G>A (FANCI)	XP_011520058.1:p.Glu1313Lys
XM_011521757.2:c.3937G>A (FANCI)	XP_011520059.1:p.Glu1313Lys
XM_011521764.2:c.3757G>A (FANCI)	XP_011520066.1:p.Glu1253Lys
XM_011521767.2:c.3658G>A (FANCI)	XP_011520069.1:p.Glu1220Lys
NM_001113378.2:c.3937G>A (FANCI) MANE Select	NP_001106849.1:p.Glu1313Lys
NM_001126131.2:c.*342C>T (POLG)	NP_001119603.1:n.*342C>T
NM_001376910.1:c.3658G>A (FANCI)	NP_001363839.1:p.Glu1220Lys
NM_001376911.1:c.3937G>A (FANCI)	NP_001363840.1:p.Glu1313Lys
NM_018193.3:c.3757G>A (FANCI)	NP_060663.2:p.Glu1253Lys
NM_002693.3:c.*342C>T (POLG) MANE Select	NP_002684.1:n.*342C>T