Canonical Allele Identifier: CA274525786

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89305658C>G , CM000677.2:g.89305658C>G GRCh38
NC_000015.9:g.89848889C>G , CM000677.1:g.89848889C>G GRCh37
NC_000015.8:g.87649893C>G NCBI36
NG_011736.1:g.66696C>G , LRG_500:g.66696C>G
NG_008218.2:g.34138G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696717.1:c.3030C>G (FANCI) ENSP00000512830.1:p.Ile1010Met
ENST00000696718.1:c.2772C>G (FANCI) ENSP00000512831.1:p.Ile924Met
ENST00000696719.1:c.3309C>G (FANCI) ENSP00000512832.1:p.Ile1103Met
ENST00000696721.1:n.4894C>G (FANCI)
ENST00000310775.12:c.3309C>G (FANCI) MANE Select ENSP00000310842.8:p.Ile1103Met
ENST00000635831.1:c.74-434G>C (POLG)
ENST00000674831.1:c.3309C>G (FANCI) ENSP00000502474.1:p.Ile1103Met
ENST00000676003.1:c.3267C>G (FANCI) ENSP00000502254.1:p.Ile1089Met
ENST00000300027.12:c.3129C>G (FANCI) ENSP00000300027.8:p.Ile1043Met
ENST00000310775.11:c.3309C>G (FANCI) ENSP00000310842.7:p.Ile1103Met
ENST00000447611.6:c.3129C>G (FANCI) ENSP00000413249.2:p.Ile1043Met
ENST00000561894.1:c.2608C>G (FANCI)
ENST00000565522.5:n.130-7246C>G (FANCI)
ENST00000566895.5:n.3316C>G (FANCI)
NM_001113378.1:c.3309C>G , LRG_500t1:c.3309C>G (FANCI) NP_001106849.1:p.Ile1103Met
NM_018193.2:c.3129C>G (FANCI) NP_060663.2:p.Ile1043Met
XM_011521756.1:c.3309C>G (FANCI) XP_011520058.1:p.Ile1103Met
XM_011521757.1:c.3309C>G (FANCI) XP_011520059.1:p.Ile1103Met
XM_011521758.1:c.3309C>G (FANCI) XP_011520060.1:p.Ile1103Met
XM_011521759.1:c.3309C>G (FANCI) XP_011520061.1:p.Ile1103Met
XM_011521760.1:c.3309C>G (FANCI) XP_011520062.1:p.Ile1103Met
XM_011521761.1:c.3309C>G (FANCI) XP_011520063.1:p.Ile1103Met
XM_011521762.1:c.3309C>G (FANCI) XP_011520064.1:p.Ile1103Met
XM_011521763.1:c.3267C>G (FANCI) XP_011520065.1:p.Ile1089Met
XM_011521764.1:c.3129C>G (FANCI) XP_011520066.1:p.Ile1043Met
XM_011521765.1:c.3030C>G (FANCI) XP_011520067.1:p.Ile1010Met
XM_011521766.1:c.3030C>G (FANCI) XP_011520068.1:p.Ile1010Met
XM_011521767.1:c.3030C>G (FANCI) XP_011520069.1:p.Ile1010Met
XM_011521768.1:c.3309C>G (FANCI) XP_011520070.1:p.Ile1103Met
XM_011521769.1:c.2964C>G (FANCI) XP_011520071.1:p.Ile988Met
XM_011521756.2:c.3309C>G (FANCI) XP_011520058.1:p.Ile1103Met
XM_011521757.2:c.3309C>G (FANCI) XP_011520059.1:p.Ile1103Met
XM_011521764.2:c.3129C>G (FANCI) XP_011520066.1:p.Ile1043Met
XM_011521767.2:c.3030C>G (FANCI) XP_011520069.1:p.Ile1010Met
NM_001113378.2:c.3309C>G (FANCI) MANE Select NP_001106849.1:p.Ile1103Met
NM_001376910.1:c.3030C>G (FANCI) NP_001363839.1:p.Ile1010Met
NM_001376911.1:c.3309C>G (FANCI) NP_001363840.1:p.Ile1103Met
NM_018193.3:c.3129C>G (FANCI) NP_060663.2:p.Ile1043Met