Canonical Allele Identifier: CA393746331

Gene: POLG FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89859635C>G (hg19) ; chr15:g.89316404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316404C>G , CM000677.2:g.89316404C>G	GRCh38
NC_000015.9:g.89859635C>G , CM000677.1:g.89859635C>G	GRCh37
NC_000015.8:g.87660639C>G	NCBI36
NG_008218.1:g.23392G>C
NG_011736.1:g.77442C>G , LRG_500:g.77442C>G
NG_008218.2:g.23392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.*347G>C (POLG)	ENSP00000516154.1:n.*347G>C
ENST00000696717.1:c.3653C>G (FANCI)	ENSP00000512830.1:p.Ala1218Gly
ENST00000696718.1:c.3395C>G (FANCI)	ENSP00000512831.1:p.Ala1132Gly
ENST00000696719.1:c.3932C>G (FANCI)	ENSP00000512832.1:p.Ala1311Gly
ENST00000696721.1:n.5517C>G (FANCI)
ENST00000268124.11:c.*347G>C (POLG) MANE Select	ENSP00000268124.5:n.*347G>C
ENST00000310775.12:c.3932C>G (FANCI) MANE Select	ENSP00000310842.8:p.Ala1311Gly
ENST00000530292.3:c.3767G>C (POLG)	ENSP00000432885.2:n.3767G>C
ENST00000635831.1:c.73+302G>C (POLG)
ENST00000635986.2:c.*1137G>C (POLG)	ENSP00000490653.2:n.*1137G>C
ENST00000637238.1:c.2975G>C (POLG)	ENSP00000490756.1:n.2975G>C
ENST00000637264.1:c.3079G>C (POLG)
ENST00000666746.1:c.3644G>C (POLG)
ENST00000672071.1:n.5269G>C (POLG)
ENST00000672695.1:n.1846G>C (POLG)
ENST00000672923.2:n.4067G>C (POLG)
ENST00000674831.1:c.4064C>G (FANCI)	ENSP00000502474.1:p.Ala1355Gly
ENST00000675352.1:n.3137C>G (FANCI)
ENST00000676003.1:c.3890C>G (FANCI)	ENSP00000502254.1:p.Ala1297Gly
ENST00000676110.1:n.3513C>G (FANCI)
ENST00000268124.9:c.*347G>C (POLG)	ENSP00000268124.5:n.*347G>C
ENST00000300027.12:c.3752C>G (FANCI)	ENSP00000300027.8:p.Ala1251Gly
ENST00000310775.11:c.3932C>G (FANCI)	ENSP00000310842.7:p.Ala1311Gly
ENST00000442287.6:c.*347G>C (POLG)	ENSP00000399851.2:n.*347G>C
ENST00000447611.6:c.*276C>G (FANCI)	ENSP00000413249.2:n.*276C>G
ENST00000530292.2:c.1250G>C (POLG)	ENSP00000432885.1:n.1250G>C
ENST00000561894.1:c.3228C>G (FANCI)
ENST00000566615.1:n.515C>G (FANCI)
ENST00000566895.5:n.3939C>G (FANCI)
ENST00000631044.2:c.*3491G>C (POLG)	ENSP00000486730.1:n.*3491G>C
NM_001113378.1:c.3932C>G , LRG_500t1:c.3932C>G (FANCI)	NP_001106849.1:p.Ala1311Gly
NM_001126131.1:c.*347G>C (POLG)	NP_001119603.1:n.*347G>C
NM_002693.2:c.*347G>C (POLG)	NP_002684.1:n.*347G>C
NM_018193.2:c.3752C>G (FANCI)	NP_060663.2:p.Ala1251Gly
XM_011521756.1:c.3932C>G (FANCI)	XP_011520058.1:p.Ala1311Gly
XM_011521757.1:c.3932C>G (FANCI)	XP_011520059.1:p.Ala1311Gly
XM_011521758.1:c.3932C>G (FANCI)	XP_011520060.1:p.Ala1311Gly
XM_011521759.1:c.3932C>G (FANCI)	XP_011520061.1:p.Ala1311Gly
XM_011521760.1:c.3932C>G (FANCI)	XP_011520062.1:p.Ala1311Gly
XM_011521761.1:c.3932C>G (FANCI)	XP_011520063.1:p.Ala1311Gly
XM_011521762.1:c.3932C>G (FANCI)	XP_011520064.1:p.Ala1311Gly
XM_011521763.1:c.3890C>G (FANCI)	XP_011520065.1:p.Ala1297Gly
XM_011521764.1:c.3752C>G (FANCI)	XP_011520066.1:p.Ala1251Gly
XM_011521765.1:c.3653C>G (FANCI)	XP_011520067.1:p.Ala1218Gly
XM_011521766.1:c.3653C>G (FANCI)	XP_011520068.1:p.Ala1218Gly
XM_011521767.1:c.3653C>G (FANCI)	XP_011520069.1:p.Ala1218Gly
XM_011521769.1:c.3587C>G (FANCI)	XP_011520071.1:p.Ala1196Gly
XM_011521756.2:c.3932C>G (FANCI)	XP_011520058.1:p.Ala1311Gly
XM_011521757.2:c.3932C>G (FANCI)	XP_011520059.1:p.Ala1311Gly
XM_011521764.2:c.3752C>G (FANCI)	XP_011520066.1:p.Ala1251Gly
XM_011521767.2:c.3653C>G (FANCI)	XP_011520069.1:p.Ala1218Gly
NM_001113378.2:c.3932C>G (FANCI) MANE Select	NP_001106849.1:p.Ala1311Gly
NM_001126131.2:c.*347G>C (POLG)	NP_001119603.1:n.*347G>C
NM_001376910.1:c.3653C>G (FANCI)	NP_001363839.1:p.Ala1218Gly
NM_001376911.1:c.3932C>G (FANCI)	NP_001363840.1:p.Ala1311Gly
NM_018193.3:c.3752C>G (FANCI)	NP_060663.2:p.Ala1251Gly
NM_002693.3:c.*347G>C (POLG) MANE Select	NP_002684.1:n.*347G>C