Canonical Allele Identifier: CA393738924

Gene: FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89807159G>C (hg19) ; chr15:g.89263928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89263928G>C , CM000677.2:g.89263928G>C	GRCh38
NC_000015.9:g.89807159G>C , CM000677.1:g.89807159G>C	GRCh37
NC_000015.8:g.87608163G>C	NCBI36
NG_011736.1:g.24966G>C , LRG_500:g.24966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.292G>C	ENSP00000512830.1:p.Val98Leu
ENST00000696718.1:c.34G>C	ENSP00000512831.1:p.Val12Leu
ENST00000696719.1:c.571G>C	ENSP00000512832.1:p.Val191Leu
ENST00000310775.12:c.571G>C MANE Select	ENSP00000310842.8:p.Val191Leu
ENST00000674831.1:c.571G>C	ENSP00000502474.1:p.Val191Leu
ENST00000676003.1:c.571G>C	ENSP00000502254.1:p.Val191Leu
ENST00000300027.12:c.571G>C	ENSP00000300027.8:p.Val191Leu
ENST00000310775.11:c.571G>C	ENSP00000310842.7:p.Val191Leu
ENST00000447611.6:c.571G>C	ENSP00000413249.2:p.Val191Leu
ENST00000561894.1:c.50G>C
ENST00000563250.5:c.571G>C	ENSP00000457029.1:p.Val191Leu
ENST00000565255.5:c.571G>C	ENSP00000454371.1:p.Val191Leu
ENST00000565522.5:n.129+16202G>C
ENST00000567996.5:c.571G>C	ENSP00000458024.1:p.Val191Leu
ENST00000570225.5:c.109G>C	ENSP00000454669.1:p.Val37Leu
NM_001113378.1:c.571G>C , LRG_500t1:c.571G>C	NP_001106849.1:p.Val191Leu
NM_018193.2:c.571G>C	NP_060663.2:p.Val191Leu
XM_011521756.1:c.571G>C	XP_011520058.1:p.Val191Leu
XM_011521757.1:c.571G>C	XP_011520059.1:p.Val191Leu
XM_011521758.1:c.571G>C	XP_011520060.1:p.Val191Leu
XM_011521759.1:c.571G>C	XP_011520061.1:p.Val191Leu
XM_011521760.1:c.571G>C	XP_011520062.1:p.Val191Leu
XM_011521761.1:c.571G>C	XP_011520063.1:p.Val191Leu
XM_011521762.1:c.571G>C	XP_011520064.1:p.Val191Leu
XM_011521763.1:c.571G>C	XP_011520065.1:p.Val191Leu
XM_011521764.1:c.571G>C	XP_011520066.1:p.Val191Leu
XM_011521765.1:c.292G>C	XP_011520067.1:p.Val98Leu
XM_011521766.1:c.292G>C	XP_011520068.1:p.Val98Leu
XM_011521767.1:c.292G>C	XP_011520069.1:p.Val98Leu
XM_011521768.1:c.571G>C	XP_011520070.1:p.Val191Leu
XM_011521769.1:c.571G>C	XP_011520071.1:p.Val191Leu
XM_011521756.2:c.571G>C	XP_011520058.1:p.Val191Leu
XM_011521757.2:c.571G>C	XP_011520059.1:p.Val191Leu
XM_011521764.2:c.571G>C	XP_011520066.1:p.Val191Leu
XM_011521767.2:c.292G>C	XP_011520069.1:p.Val98Leu
NM_001113378.2:c.571G>C MANE Select	NP_001106849.1:p.Val191Leu
NM_001376910.1:c.292G>C	NP_001363839.1:p.Val98Leu
NM_001376911.1:c.571G>C	NP_001363840.1:p.Val191Leu
NM_018193.3:c.571G>C	NP_060663.2:p.Val191Leu