Canonical Allele Identifier: CA7724040

Linked Data

ClinVar Variation Id: 458718
dbSNP Id: rs148786642

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89316804T>C , CM000677.2:g.89316804T>C GRCh38
NC_000015.9:g.89860035T>C , CM000677.1:g.89860035T>C GRCh37
NC_000015.8:g.87661039T>C NCBI36
NG_008218.1:g.22992A>G
NG_011736.1:g.77842T>C , LRG_500:g.77842T>C
NG_008218.2:g.22992A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268124.11:c.3667A>G (POLG) MANE Select ENSP00000268124.5:p.Ile1223Val
ENST00000310775.12:c.*345T>C (FANCI) MANE Select ENSP00000310842.8:p.=
ENST00000530292.3:n.3367A>G ENSP00000432885.2:p.=
ENST00000635986.2:c.*737A>G ENSP00000490653.2:p.=
ENST00000636774.1:c.*2271A>G ENSP00000489799.1:p.=
ENST00000637238.1:n.2575A>G ENSP00000490756.1:p.=
ENST00000637264.1:n.2679A>G
ENST00000666746.1:n.3244A>G
ENST00000672071.1:n.4869A>G
ENST00000672695.1:n.1446A>G
ENST00000672923.2:n.3667A>G
ENST00000675352.1:n.3537T>C
ENST00000676003.1:c.*345T>C ENSP00000502254.1:p.=
ENST00000676110.1:n.3913T>C
ENST00000268124.9:c.3667A>G ENSP00000268124.5:p.Ile1223Val
ENST00000300027.12:c.*345T>C ENSP00000300027.8:p.=
ENST00000310775.11:c.*345T>C ENSP00000310842.7:p.=
ENST00000442287.6:c.3667A>G ENSP00000399851.2:p.Ile1223Val
ENST00000526671.1:n.477A>G
ENST00000530292.2:n.850A>G ENSP00000432885.1:p.=
ENST00000566895.5:n.4339T>C
ENST00000631044.2:c.*3091A>G ENSP00000486730.1:p.=
NM_001113378.1:c.*345T>C , LRG_500t1:c.*345T>C (FANCI) NP_001106849.1:p.=
NM_001126131.1:c.3667A>G (POLG) NP_001119603.1:p.Ile1223Val
NM_002693.2:c.3667A>G (POLG) NP_002684.1:p.Ile1223Val
NM_018193.2:c.*345T>C (FANCI) NP_060663.2:p.=
XM_011521756.1:c.*345T>C (FANCI) XP_011520058.1:p.=
XM_011521757.1:c.*345T>C (FANCI) XP_011520059.1:p.=
XM_011521758.1:c.*345T>C (FANCI) XP_011520060.1:p.=
XM_011521759.1:c.*345T>C (FANCI) XP_011520061.1:p.=
XM_011521760.1:c.*345T>C (FANCI) XP_011520062.1:p.=
XM_011521761.1:c.*345T>C (FANCI) XP_011520063.1:p.=
XM_011521762.1:c.*345T>C (FANCI) XP_011520064.1:p.=
XM_011521763.1:c.*345T>C (FANCI) XP_011520065.1:p.=
XM_011521764.1:c.*345T>C (FANCI) XP_011520066.1:p.=
XM_011521765.1:c.*345T>C (FANCI) XP_011520067.1:p.=
XM_011521766.1:c.*345T>C (FANCI) XP_011520068.1:p.=
XM_011521767.1:c.*345T>C (FANCI) XP_011520069.1:p.=
XM_011521769.1:c.*345T>C (FANCI) XP_011520071.1:p.=
XM_011521756.2:c.*345T>C (FANCI) XP_011520058.1:p.=
XM_011521757.2:c.*345T>C (FANCI) XP_011520059.1:p.=
XM_011521764.2:c.*345T>C (FANCI) XP_011520066.1:p.=
XM_011521767.2:c.*345T>C (FANCI) XP_011520069.1:p.=
NM_001113378.2:c.*345T>C (FANCI) MANE Select NP_001106849.1:p.=
NM_001126131.2:c.3667A>G (POLG) NP_001119603.1:p.Ile1223Val
NM_001376910.1:c.*345T>C (FANCI) NP_001363839.1:p.=
NM_001376911.1:c.*345T>C (FANCI) NP_001363840.1:p.=
NM_018193.3:c.*345T>C (FANCI) NP_060663.2:p.=
NM_002693.3:c.3667A>G (POLG) MANE Select NP_002684.1:p.Ile1223Val