Canonical Allele Identifier: CA2575828179

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89316299C>A , CM000677.2:g.89316299C>A GRCh38
NC_000015.9:g.89859530C>A , CM000677.1:g.89859530C>A GRCh37
NC_000015.8:g.87660534C>A NCBI36
NG_008218.1:g.23497G>T
NG_011736.1:g.77337C>A , LRG_500:g.77337C>A
NG_008218.2:g.23497G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696717.1:c.3646-98C>A (FANCI) ENSP00000512830.1:n.3646-98C>A
ENST00000696718.1:c.3388-98C>A (FANCI) ENSP00000512831.1:n.3388-98C>A
ENST00000696719.1:c.3925-98C>A (FANCI) ENSP00000512832.1:n.3925-98C>A
ENST00000696721.1:n.5510-98C>A (FANCI)
ENST00000310775.12:c.3925-98C>A (FANCI) MANE Select ENSP00000310842.8:n.3925-98C>A
ENST00000635831.1:c.73+407G>T (POLG)
ENST00000674831.1:c.4057-98C>A (FANCI) ENSP00000502474.1:n.4057-98C>A
ENST00000675352.1:n.3130-98C>A (FANCI)
ENST00000676003.1:c.3883-98C>A (FANCI) ENSP00000502254.1:n.3883-98C>A
ENST00000676110.1:n.3506-98C>A (FANCI)
ENST00000300027.12:c.3745-98C>A (FANCI) ENSP00000300027.8:n.3745-98C>A
ENST00000310775.11:c.3925-98C>A (FANCI) ENSP00000310842.7:n.3925-98C>A
ENST00000447611.6:c.*269-98C>A (FANCI) ENSP00000413249.2:n.*269-98C>A
ENST00000561894.1:c.3221-98C>A (FANCI)
ENST00000566615.1:n.508-98C>A (FANCI)
ENST00000566895.5:n.3932-98C>A (FANCI)
NM_001113378.1:c.3925-98C>A , LRG_500t1:c.3925-98C>A (FANCI) NP_001106849.1:n.3925-98C>A
NM_018193.2:c.3745-98C>A (FANCI) NP_060663.2:n.3745-98C>A
XM_011521756.1:c.3925-98C>A (FANCI) XP_011520058.1:n.3925-98C>A
XM_011521757.1:c.3925-98C>A (FANCI) XP_011520059.1:n.3925-98C>A
XM_011521758.1:c.3925-98C>A (FANCI) XP_011520060.1:n.3925-98C>A
XM_011521759.1:c.3925-98C>A (FANCI) XP_011520061.1:n.3925-98C>A
XM_011521760.1:c.3925-98C>A (FANCI) XP_011520062.1:n.3925-98C>A
XM_011521761.1:c.3925-98C>A (FANCI) XP_011520063.1:n.3925-98C>A
XM_011521762.1:c.3925-98C>A (FANCI) XP_011520064.1:n.3925-98C>A
XM_011521763.1:c.3883-98C>A (FANCI) XP_011520065.1:n.3883-98C>A
XM_011521764.1:c.3745-98C>A (FANCI) XP_011520066.1:n.3745-98C>A
XM_011521765.1:c.3646-98C>A (FANCI) XP_011520067.1:n.3646-98C>A
XM_011521766.1:c.3646-98C>A (FANCI) XP_011520068.1:n.3646-98C>A
XM_011521767.1:c.3646-98C>A (FANCI) XP_011520069.1:n.3646-98C>A
XM_011521769.1:c.3580-98C>A (FANCI) XP_011520071.1:n.3580-98C>A
XM_011521756.2:c.3925-98C>A (FANCI) XP_011520058.1:n.3925-98C>A
XM_011521757.2:c.3925-98C>A (FANCI) XP_011520059.1:n.3925-98C>A
XM_011521764.2:c.3745-98C>A (FANCI) XP_011520066.1:n.3745-98C>A
XM_011521767.2:c.3646-98C>A (FANCI) XP_011520069.1:n.3646-98C>A
NM_001113378.2:c.3925-98C>A (FANCI) MANE Select NP_001106849.1:n.3925-98C>A
NM_001376910.1:c.3646-98C>A (FANCI) NP_001363839.1:n.3646-98C>A
NM_001376911.1:c.3925-98C>A (FANCI) NP_001363840.1:n.3925-98C>A
NM_018193.3:c.3745-98C>A (FANCI) NP_060663.2:n.3745-98C>A