Canonical Allele Identifier: CA316629

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 206489
• ClinVar RCV Id: RCV000188539 ; RCV000758388 ; RCV000726207 ; RCV003985749
• dbSNP Id: rs146301349
• ExAC: 15:89860050 G / A
• gnomAD v2: 15-89860050-G-A
• gnomAD v3: 15-89316819-G-A
• gnomAD v4: 15-89316819-G-A
• MyVariant Identifiers: chr15:g.89860050G>A (hg19) ; chr15:g.89316819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316819G>A , CM000677.2:g.89316819G>A	GRCh38
NC_000015.9:g.89860050G>A , CM000677.1:g.89860050G>A	GRCh37
NC_000015.8:g.87661054G>A	NCBI36
NG_008218.1:g.22977C>T
NG_011736.1:g.77857G>A , LRG_500:g.77857G>A
NG_008218.2:g.22977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3652C>T (POLG)	ENSP00000516154.1:p.Leu1218=
ENST00000696717.1:c.*360G>A (FANCI)	ENSP00000512830.1:n.*360G>A
ENST00000696718.1:c.*360G>A (FANCI)	ENSP00000512831.1:n.*360G>A
ENST00000696719.1:c.*360G>A (FANCI)	ENSP00000512832.1:n.*360G>A
ENST00000268124.11:c.3652C>T (POLG) MANE Select	ENSP00000268124.5:p.Leu1218=
ENST00000310775.12:c.*360G>A (FANCI) MANE Select	ENSP00000310842.8:n.*360G>A
ENST00000530292.3:c.3352C>T (POLG)	ENSP00000432885.2:n.3352C>T
ENST00000635986.2:c.*722C>T (POLG)	ENSP00000490653.2:n.*722C>T
ENST00000636774.1:c.*2256C>T (POLG)	ENSP00000489799.1:n.*2256C>T
ENST00000637238.1:c.2560C>T (POLG)	ENSP00000490756.1:n.2560C>T
ENST00000637264.1:c.2664C>T (POLG)
ENST00000666746.1:c.3229C>T (POLG)
ENST00000672071.1:n.4854C>T (POLG)
ENST00000672695.1:n.1431C>T (POLG)
ENST00000672923.2:n.3652C>T (POLG)
ENST00000675352.1:n.3552G>A (FANCI)
ENST00000676003.1:c.*360G>A (FANCI)	ENSP00000502254.1:n.*360G>A
ENST00000676110.1:n.3928G>A (FANCI)
ENST00000268124.9:c.3652C>T (POLG)	ENSP00000268124.5:p.Leu1218=
ENST00000300027.12:c.*360G>A (FANCI)	ENSP00000300027.8:n.*360G>A
ENST00000310775.11:c.*360G>A (FANCI)	ENSP00000310842.7:n.*360G>A
ENST00000442287.6:c.3652C>T (POLG)	ENSP00000399851.2:p.Leu1218=
ENST00000526671.1:n.462C>T (POLG)
ENST00000530292.2:c.835C>T (POLG)	ENSP00000432885.1:n.835C>T
ENST00000566895.5:n.4354G>A (FANCI)
ENST00000631044.2:c.*3076C>T (POLG)	ENSP00000486730.1:n.*3076C>T
NM_001113378.1:c.*360G>A , LRG_500t1:c.*360G>A (FANCI)	NP_001106849.1:n.*360G>A
NM_001126131.1:c.3652C>T (POLG)	NP_001119603.1:p.Leu1218=
NM_002693.2:c.3652C>T (POLG)	NP_002684.1:p.Leu1218=
NM_018193.2:c.*360G>A (FANCI)	NP_060663.2:n.*360G>A
XM_011521756.1:c.*360G>A (FANCI)	XP_011520058.1:n.*360G>A
XM_011521757.1:c.*360G>A (FANCI)	XP_011520059.1:n.*360G>A
XM_011521758.1:c.*360G>A (FANCI)	XP_011520060.1:n.*360G>A
XM_011521759.1:c.*360G>A (FANCI)	XP_011520061.1:n.*360G>A
XM_011521760.1:c.*360G>A (FANCI)	XP_011520062.1:n.*360G>A
XM_011521761.1:c.*360G>A (FANCI)	XP_011520063.1:n.*360G>A
XM_011521762.1:c.*360G>A (FANCI)	XP_011520064.1:n.*360G>A
XM_011521763.1:c.*360G>A (FANCI)	XP_011520065.1:n.*360G>A
XM_011521764.1:c.*360G>A (FANCI)	XP_011520066.1:n.*360G>A
XM_011521765.1:c.*360G>A (FANCI)	XP_011520067.1:n.*360G>A
XM_011521766.1:c.*360G>A (FANCI)	XP_011520068.1:n.*360G>A
XM_011521767.1:c.*360G>A (FANCI)	XP_011520069.1:n.*360G>A
XM_011521769.1:c.*360G>A (FANCI)	XP_011520071.1:n.*360G>A
XM_011521756.2:c.*360G>A (FANCI)	XP_011520058.1:n.*360G>A
XM_011521757.2:c.*360G>A (FANCI)	XP_011520059.1:n.*360G>A
XM_011521764.2:c.*360G>A (FANCI)	XP_011520066.1:n.*360G>A
XM_011521767.2:c.*360G>A (FANCI)	XP_011520069.1:n.*360G>A
NM_001113378.2:c.*360G>A (FANCI) MANE Select	NP_001106849.1:n.*360G>A
NM_001126131.2:c.3652C>T (POLG)	NP_001119603.1:p.Leu1218=
NM_001376910.1:c.*360G>A (FANCI)	NP_001363839.1:n.*360G>A
NM_001376911.1:c.*360G>A (FANCI)	NP_001363840.1:n.*360G>A
NM_018193.3:c.*360G>A (FANCI)	NP_060663.2:n.*360G>A
NM_002693.3:c.3652C>T (POLG) MANE Select	NP_002684.1:p.Leu1218=