Canonical Allele Identifier: CA393746300

Gene: POLG FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89859629G>C (hg19) ; chr15:g.89316398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316398G>C , CM000677.2:g.89316398G>C	GRCh38
NC_000015.9:g.89859629G>C , CM000677.1:g.89859629G>C	GRCh37
NC_000015.8:g.87660633G>C	NCBI36
NG_008218.1:g.23398C>G
NG_011736.1:g.77436G>C , LRG_500:g.77436G>C
NG_008218.2:g.23398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*353C>G (POLG)	ENSP00000516154.1:n.*353C>G
ENST00000696717.1:c.3647G>C (FANCI)	ENSP00000512830.1:p.Gly1216Ala
ENST00000696718.1:c.3389G>C (FANCI)	ENSP00000512831.1:p.Gly1130Ala
ENST00000696719.1:c.3926G>C (FANCI)	ENSP00000512832.1:p.Gly1309Ala
ENST00000696721.1:n.5511G>C (FANCI)
ENST00000268124.11:c.*353C>G (POLG) MANE Select	ENSP00000268124.5:n.*353C>G
ENST00000310775.12:c.3926G>C (FANCI) MANE Select	ENSP00000310842.8:p.Gly1309Ala
ENST00000530292.3:c.3773C>G (POLG)	ENSP00000432885.2:n.3773C>G
ENST00000635831.1:c.73+308C>G (POLG)
ENST00000635986.2:c.*1143C>G (POLG)	ENSP00000490653.2:n.*1143C>G
ENST00000637238.1:c.2981C>G (POLG)	ENSP00000490756.1:n.2981C>G
ENST00000637264.1:c.3085C>G (POLG)
ENST00000666746.1:c.3650C>G (POLG)
ENST00000672071.1:n.5275C>G (POLG)
ENST00000672695.1:n.1852C>G (POLG)
ENST00000672923.2:n.4073C>G (POLG)
ENST00000674831.1:c.4058G>C (FANCI)	ENSP00000502474.1:p.Gly1353Ala
ENST00000675352.1:n.3131G>C (FANCI)
ENST00000676003.1:c.3884G>C (FANCI)	ENSP00000502254.1:p.Gly1295Ala
ENST00000676110.1:n.3507G>C (FANCI)
ENST00000268124.9:c.*353C>G (POLG)	ENSP00000268124.5:n.*353C>G
ENST00000300027.12:c.3746G>C (FANCI)	ENSP00000300027.8:p.Gly1249Ala
ENST00000310775.11:c.3926G>C (FANCI)	ENSP00000310842.7:p.Gly1309Ala
ENST00000442287.6:c.*353C>G (POLG)	ENSP00000399851.2:n.*353C>G
ENST00000447611.6:c.*270G>C (FANCI)	ENSP00000413249.2:n.*270G>C
ENST00000530292.2:c.1256C>G (POLG)	ENSP00000432885.1:n.1256C>G
ENST00000561894.1:c.3222G>C (FANCI)
ENST00000566615.1:n.509G>C (FANCI)
ENST00000566895.5:n.3933G>C (FANCI)
ENST00000631044.2:c.*3497C>G (POLG)	ENSP00000486730.1:n.*3497C>G
NM_001113378.1:c.3926G>C , LRG_500t1:c.3926G>C (FANCI)	NP_001106849.1:p.Gly1309Ala
NM_001126131.1:c.*353C>G (POLG)	NP_001119603.1:n.*353C>G
NM_002693.2:c.*353C>G (POLG)	NP_002684.1:n.*353C>G
NM_018193.2:c.3746G>C (FANCI)	NP_060663.2:p.Gly1249Ala
XM_011521756.1:c.3926G>C (FANCI)	XP_011520058.1:p.Gly1309Ala
XM_011521757.1:c.3926G>C (FANCI)	XP_011520059.1:p.Gly1309Ala
XM_011521758.1:c.3926G>C (FANCI)	XP_011520060.1:p.Gly1309Ala
XM_011521759.1:c.3926G>C (FANCI)	XP_011520061.1:p.Gly1309Ala
XM_011521760.1:c.3926G>C (FANCI)	XP_011520062.1:p.Gly1309Ala
XM_011521761.1:c.3926G>C (FANCI)	XP_011520063.1:p.Gly1309Ala
XM_011521762.1:c.3926G>C (FANCI)	XP_011520064.1:p.Gly1309Ala
XM_011521763.1:c.3884G>C (FANCI)	XP_011520065.1:p.Gly1295Ala
XM_011521764.1:c.3746G>C (FANCI)	XP_011520066.1:p.Gly1249Ala
XM_011521765.1:c.3647G>C (FANCI)	XP_011520067.1:p.Gly1216Ala
XM_011521766.1:c.3647G>C (FANCI)	XP_011520068.1:p.Gly1216Ala
XM_011521767.1:c.3647G>C (FANCI)	XP_011520069.1:p.Gly1216Ala
XM_011521769.1:c.3581G>C (FANCI)	XP_011520071.1:p.Gly1194Ala
XM_011521756.2:c.3926G>C (FANCI)	XP_011520058.1:p.Gly1309Ala
XM_011521757.2:c.3926G>C (FANCI)	XP_011520059.1:p.Gly1309Ala
XM_011521764.2:c.3746G>C (FANCI)	XP_011520066.1:p.Gly1249Ala
XM_011521767.2:c.3647G>C (FANCI)	XP_011520069.1:p.Gly1216Ala
NM_001113378.2:c.3926G>C (FANCI) MANE Select	NP_001106849.1:p.Gly1309Ala
NM_001126131.2:c.*353C>G (POLG)	NP_001119603.1:n.*353C>G
NM_001376910.1:c.3647G>C (FANCI)	NP_001363839.1:p.Gly1216Ala
NM_001376911.1:c.3926G>C (FANCI)	NP_001363840.1:p.Gly1309Ala
NM_018193.3:c.3746G>C (FANCI)	NP_060663.2:p.Gly1249Ala
NM_002693.3:c.*353C>G (POLG) MANE Select	NP_002684.1:n.*353C>G