Canonical Allele Identifier: CA7723562

Gene: FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89303898G>A , CM000677.2:g.89303898G>A	GRCh38
NC_000015.9:g.89847129G>A , CM000677.1:g.89847129G>A	GRCh37
NC_000015.8:g.87648133G>A	NCBI36
NG_011736.1:g.64936G>A , LRG_500:g.64936G>A
NG_008218.2:g.35898C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001113378.2:c.3041G>A MANE Select	NP_001106849.1:p.Cys1014Tyr
ENST00000310775.12:c.3041G>A MANE Select	ENSP00000310842.8:p.Cys1014Tyr
NM_001113378.1:c.3041G>A , LRG_500t1:c.3041G>A	NP_001106849.1:p.Cys1014Tyr
NM_001376910.1:c.2762G>A	NP_001363839.1:p.Cys921Tyr
NM_001376911.1:c.3041G>A	NP_001363840.1:p.Cys1014Tyr
NM_018193.2:c.2861G>A	NP_060663.2:p.Cys954Tyr
NM_018193.3:c.2861G>A	NP_060663.2:p.Cys954Tyr
ENST00000300027.12:c.2861G>A	ENSP00000300027.8:p.Cys954Tyr
ENST00000310775.11:c.3041G>A	ENSP00000310842.7:p.Cys1014Tyr
ENST00000447611.6:c.2861G>A	ENSP00000413249.2:p.Cys954Tyr
ENST00000561894.1:c.2340G>A
ENST00000565522.5:n.130-9006G>A
ENST00000566895.5:n.3048G>A
ENST00000674831.1:c.3041G>A	ENSP00000502474.1:p.Cys1014Tyr
ENST00000676003.1:c.2999G>A	ENSP00000502254.1:p.Cys1000Tyr
ENST00000696717.1:c.2762G>A	ENSP00000512830.1:p.Cys921Tyr
ENST00000696718.1:c.2504G>A	ENSP00000512831.1:p.Cys835Tyr
ENST00000696719.1:c.3041G>A	ENSP00000512832.1:p.Cys1014Tyr
ENST00000696721.1:n.3427G>A
XM_011521756.1:c.3041G>A	XP_011520058.1:p.Cys1014Tyr
XM_011521756.2:c.3041G>A	XP_011520058.1:p.Cys1014Tyr
XM_011521757.1:c.3041G>A	XP_011520059.1:p.Cys1014Tyr
XM_011521757.2:c.3041G>A	XP_011520059.1:p.Cys1014Tyr
XM_011521758.1:c.3041G>A	XP_011520060.1:p.Cys1014Tyr
XM_011521759.1:c.3041G>A	XP_011520061.1:p.Cys1014Tyr
XM_011521760.1:c.3041G>A	XP_011520062.1:p.Cys1014Tyr
XM_011521761.1:c.3041G>A	XP_011520063.1:p.Cys1014Tyr
XM_011521762.1:c.3041G>A	XP_011520064.1:p.Cys1014Tyr
XM_011521763.1:c.2999G>A	XP_011520065.1:p.Cys1000Tyr
XM_011521764.1:c.2861G>A	XP_011520066.1:p.Cys954Tyr
XM_011521764.2:c.2861G>A	XP_011520066.1:p.Cys954Tyr
XM_011521765.1:c.2762G>A	XP_011520067.1:p.Cys921Tyr
XM_011521766.1:c.2762G>A	XP_011520068.1:p.Cys921Tyr
XM_011521767.1:c.2762G>A	XP_011520069.1:p.Cys921Tyr
XM_011521767.2:c.2762G>A	XP_011520069.1:p.Cys921Tyr
XM_011521768.1:c.3041G>A	XP_011520070.1:p.Cys1014Tyr
XM_011521769.1:c.2696G>A	XP_011520071.1:p.Cys899Tyr