Canonical Allele Identifier: CA393747054

Gene: POLG FANCI

Linked Data

• ClinVar Variation Id: 2144116
• ClinVar RCV Id: RCV003062884
• dbSNP Id: rs1371121920
• gnomAD v2: 15-89860054-T-G
• gnomAD v4: 15-89316823-T-G
• MyVariant Identifiers: chr15:g.89860054T>G (hg19) ; chr15:g.89316823T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316823T>G , CM000677.2:g.89316823T>G	GRCh38
NC_000015.9:g.89860054T>G , CM000677.1:g.89860054T>G	GRCh37
NC_000015.8:g.87661058T>G	NCBI36
NG_008218.1:g.22973A>C
NG_011736.1:g.77861T>G , LRG_500:g.77861T>G
NG_008218.2:g.22973A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3648A>C (POLG)	ENSP00000516154.1:p.Glu1216Asp
ENST00000696717.1:c.*364T>G (FANCI)	ENSP00000512830.1:n.*364T>G
ENST00000696718.1:c.*364T>G (FANCI)	ENSP00000512831.1:n.*364T>G
ENST00000696719.1:c.*364T>G (FANCI)	ENSP00000512832.1:n.*364T>G
ENST00000268124.11:c.3648A>C (POLG) MANE Select	ENSP00000268124.5:p.Glu1216Asp
ENST00000310775.12:c.*364T>G (FANCI) MANE Select	ENSP00000310842.8:n.*364T>G
ENST00000530292.3:c.3348A>C (POLG)	ENSP00000432885.2:n.3348A>C
ENST00000635986.2:c.*718A>C (POLG)	ENSP00000490653.2:n.*718A>C
ENST00000636774.1:c.*2252A>C (POLG)	ENSP00000489799.1:n.*2252A>C
ENST00000637238.1:c.2556A>C (POLG)	ENSP00000490756.1:n.2556A>C
ENST00000637264.1:c.2660A>C (POLG)
ENST00000666746.1:c.3225A>C (POLG)
ENST00000672071.1:n.4850A>C (POLG)
ENST00000672695.1:n.1427A>C (POLG)
ENST00000672923.2:n.3648A>C (POLG)
ENST00000675352.1:n.3556T>G (FANCI)
ENST00000676003.1:c.*364T>G (FANCI)	ENSP00000502254.1:n.*364T>G
ENST00000676110.1:n.3932T>G (FANCI)
ENST00000268124.9:c.3648A>C (POLG)	ENSP00000268124.5:p.Glu1216Asp
ENST00000300027.12:c.*364T>G (FANCI)	ENSP00000300027.8:n.*364T>G
ENST00000310775.11:c.*364T>G (FANCI)	ENSP00000310842.7:n.*364T>G
ENST00000442287.6:c.3648A>C (POLG)	ENSP00000399851.2:p.Glu1216Asp
ENST00000526671.1:n.458A>C (POLG)
ENST00000530292.2:c.831A>C (POLG)	ENSP00000432885.1:n.831A>C
ENST00000566895.5:n.4358T>G (FANCI)
ENST00000631044.2:c.*3072A>C (POLG)	ENSP00000486730.1:n.*3072A>C
NM_001113378.1:c.*364T>G , LRG_500t1:c.*364T>G (FANCI)	NP_001106849.1:n.*364T>G
NM_001126131.1:c.3648A>C (POLG)	NP_001119603.1:p.Glu1216Asp
NM_002693.2:c.3648A>C (POLG)	NP_002684.1:p.Glu1216Asp
NM_018193.2:c.*364T>G (FANCI)	NP_060663.2:n.*364T>G
XM_011521756.1:c.*364T>G (FANCI)	XP_011520058.1:n.*364T>G
XM_011521757.1:c.*364T>G (FANCI)	XP_011520059.1:n.*364T>G
XM_011521758.1:c.*364T>G (FANCI)	XP_011520060.1:n.*364T>G
XM_011521759.1:c.*364T>G (FANCI)	XP_011520061.1:n.*364T>G
XM_011521760.1:c.*364T>G (FANCI)	XP_011520062.1:n.*364T>G
XM_011521761.1:c.*364T>G (FANCI)	XP_011520063.1:n.*364T>G
XM_011521762.1:c.*364T>G (FANCI)	XP_011520064.1:n.*364T>G
XM_011521763.1:c.*364T>G (FANCI)	XP_011520065.1:n.*364T>G
XM_011521764.1:c.*364T>G (FANCI)	XP_011520066.1:n.*364T>G
XM_011521765.1:c.*364T>G (FANCI)	XP_011520067.1:n.*364T>G
XM_011521766.1:c.*364T>G (FANCI)	XP_011520068.1:n.*364T>G
XM_011521767.1:c.*364T>G (FANCI)	XP_011520069.1:n.*364T>G
XM_011521769.1:c.*364T>G (FANCI)	XP_011520071.1:n.*364T>G
XM_011521756.2:c.*364T>G (FANCI)	XP_011520058.1:n.*364T>G
XM_011521757.2:c.*364T>G (FANCI)	XP_011520059.1:n.*364T>G
XM_011521764.2:c.*364T>G (FANCI)	XP_011520066.1:n.*364T>G
XM_011521767.2:c.*364T>G (FANCI)	XP_011520069.1:n.*364T>G
NM_001113378.2:c.*364T>G (FANCI) MANE Select	NP_001106849.1:n.*364T>G
NM_001126131.2:c.3648A>C (POLG)	NP_001119603.1:p.Glu1216Asp
NM_001376910.1:c.*364T>G (FANCI)	NP_001363839.1:n.*364T>G
NM_001376911.1:c.*364T>G (FANCI)	NP_001363840.1:n.*364T>G
NM_018193.3:c.*364T>G (FANCI)	NP_060663.2:n.*364T>G
NM_002693.3:c.3648A>C (POLG) MANE Select	NP_002684.1:p.Glu1216Asp