Canonical Allele Identifier: CA274538167
Gene: POLG HGNC NCBI
FANCI HGNC NCBI

Linked Data

ClinVar Variation Id: 886829
ClinVar RCV Id: RCV001119232 RCV001119233 RCV001759886
dbSNP Id: rs770839560
gnomAD v2: 15-89859882-C-T
gnomAD v3: 15-89316651-C-T
gnomAD v4: 15-89316651-C-T
MyVariant Identifiers: chr15:g.89859882C>T (hg19) chr15:g.89316651C>T (hg38)
ERepo: CA274538167/MONDO:0044970/014
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89316651C>T , CM000677.2:g.89316651C>T GRCh38
NC_000015.9:g.89859882C>T , CM000677.1:g.89859882C>T GRCh37
NC_000015.8:g.87660886C>T NCBI36
NG_008218.1:g.23145G>A
NG_011736.1:g.77689C>T , LRG_500:g.77689C>T
NG_008218.2:g.23145G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.*100G>A (POLG) ENSP00000516154.1:n.*100G>A
ENST00000696717.1:c.*192C>T (FANCI) ENSP00000512830.1:n.*192C>T
ENST00000696718.1:c.*192C>T (FANCI) ENSP00000512831.1:n.*192C>T
ENST00000696719.1:c.*192C>T (FANCI) ENSP00000512832.1:n.*192C>T
ENST00000268124.11:c.*100G>A (POLG) MANE Select ENSP00000268124.5:n.*100G>A
ENST00000310775.12:c.*192C>T (FANCI) MANE Select ENSP00000310842.8:n.*192C>T
ENST00000530292.3:c.3520G>A (POLG) ENSP00000432885.2:n.3520G>A
ENST00000635831.1:c.73+55G>A (POLG)
ENST00000635986.2:c.*890G>A (POLG) ENSP00000490653.2:n.*890G>A
ENST00000637238.1:c.2728G>A (POLG) ENSP00000490756.1:n.2728G>A
ENST00000637264.1:c.2832G>A (POLG)
ENST00000666746.1:c.3397G>A (POLG)
ENST00000672071.1:n.5022G>A (POLG)
ENST00000672695.1:n.1599G>A (POLG)
ENST00000672923.2:n.3820G>A (POLG)
ENST00000675352.1:n.3384C>T (FANCI)
ENST00000676003.1:c.*192C>T (FANCI) ENSP00000502254.1:n.*192C>T
ENST00000676110.1:n.3760C>T (FANCI)
ENST00000268124.9:c.*100G>A (POLG) ENSP00000268124.5:n.*100G>A
ENST00000300027.12:c.*192C>T (FANCI) ENSP00000300027.8:n.*192C>T
ENST00000310775.11:c.*192C>T (FANCI) ENSP00000310842.7:n.*192C>T
ENST00000442287.6:c.*100G>A (POLG) ENSP00000399851.2:n.*100G>A
ENST00000526671.1:n.630G>A (POLG)
ENST00000530292.2:c.1003G>A (POLG) ENSP00000432885.1:n.1003G>A
ENST00000566895.5:n.4186C>T (FANCI)
ENST00000631044.2:c.*3244G>A (POLG) ENSP00000486730.1:n.*3244G>A
NM_001113378.1:c.*192C>T , LRG_500t1:c.*192C>T (FANCI) NP_001106849.1:n.*192C>T
NM_001126131.1:c.*100G>A (POLG) NP_001119603.1:n.*100G>A
NM_002693.2:c.*100G>A (POLG) NP_002684.1:n.*100G>A
NM_018193.2:c.*192C>T (FANCI) NP_060663.2:n.*192C>T
XM_011521756.1:c.*192C>T (FANCI) XP_011520058.1:n.*192C>T
XM_011521757.1:c.*192C>T (FANCI) XP_011520059.1:n.*192C>T
XM_011521758.1:c.*192C>T (FANCI) XP_011520060.1:n.*192C>T
XM_011521759.1:c.*192C>T (FANCI) XP_011520061.1:n.*192C>T
XM_011521760.1:c.*192C>T (FANCI) XP_011520062.1:n.*192C>T
XM_011521761.1:c.*192C>T (FANCI) XP_011520063.1:n.*192C>T
XM_011521762.1:c.*192C>T (FANCI) XP_011520064.1:n.*192C>T
XM_011521763.1:c.*192C>T (FANCI) XP_011520065.1:n.*192C>T
XM_011521764.1:c.*192C>T (FANCI) XP_011520066.1:n.*192C>T
XM_011521765.1:c.*192C>T (FANCI) XP_011520067.1:n.*192C>T
XM_011521766.1:c.*192C>T (FANCI) XP_011520068.1:n.*192C>T
XM_011521767.1:c.*192C>T (FANCI) XP_011520069.1:n.*192C>T
XM_011521769.1:c.*192C>T (FANCI) XP_011520071.1:n.*192C>T
XM_011521756.2:c.*192C>T (FANCI) XP_011520058.1:n.*192C>T
XM_011521757.2:c.*192C>T (FANCI) XP_011520059.1:n.*192C>T
XM_011521764.2:c.*192C>T (FANCI) XP_011520066.1:n.*192C>T
XM_011521767.2:c.*192C>T (FANCI) XP_011520069.1:n.*192C>T
NM_001113378.2:c.*192C>T (FANCI) MANE Select NP_001106849.1:n.*192C>T
NM_001126131.2:c.*100G>A (POLG) NP_001119603.1:n.*100G>A
NM_001376910.1:c.*192C>T (FANCI) NP_001363839.1:n.*192C>T
NM_001376911.1:c.*192C>T (FANCI) NP_001363840.1:n.*192C>T
NM_018193.3:c.*192C>T (FANCI) NP_060663.2:n.*192C>T
NM_002693.3:c.*100G>A (POLG) MANE Select NP_002684.1:n.*100G>A
Search 100 bp 5'
Search 100 bp 3'