Canonical Allele Identifier: CA7723535

Gene: FANCI

Linked Data

• ClinVar Variation Id: 238320
• ClinVar RCV Id: RCV000229685 ; RCV000247675 ; RCV001094317 ; RCV001569204
• dbSNP Id: rs138675752
• ExAC: 15:89844664 C / T
• gnomAD v2: 15-89844664-C-T
• gnomAD v3: 15-89301433-C-T
• gnomAD v4: 15-89301433-C-T
• MyVariant Identifiers: chr15:g.89844664C>T (hg19) ; chr15:g.89301433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89301433C>T , CM000677.2:g.89301433C>T	GRCh38
NC_000015.9:g.89844664C>T , CM000677.1:g.89844664C>T	GRCh37
NC_000015.8:g.87645668C>T	NCBI36
NG_011736.1:g.62471C>T , LRG_500:g.62471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696717.1:c.2718C>T	ENSP00000512830.1:p.Ser906=
ENST00000696718.1:c.2460C>T	ENSP00000512831.1:p.Ser820=
ENST00000696719.1:c.2997C>T	ENSP00000512832.1:p.Ser999=
ENST00000696721.1:n.962C>T
ENST00000310775.12:c.2997C>T MANE Select	ENSP00000310842.8:p.Ser999=
ENST00000674831.1:c.2997C>T	ENSP00000502474.1:p.Ser999=
ENST00000676003.1:c.2955C>T	ENSP00000502254.1:p.Ser985=
ENST00000300027.12:c.2817C>T	ENSP00000300027.8:p.Ser939=
ENST00000310775.11:c.2997C>T	ENSP00000310842.7:p.Ser999=
ENST00000447611.6:c.2817C>T	ENSP00000413249.2:p.Ser939=
ENST00000561894.1:c.2296C>T
ENST00000565522.5:n.130-11471C>T
ENST00000566895.5:n.3004C>T
NM_001113378.1:c.2997C>T , LRG_500t1:c.2997C>T	NP_001106849.1:p.Ser999=
NM_018193.2:c.2817C>T	NP_060663.2:p.Ser939=
XM_011521756.1:c.2997C>T	XP_011520058.1:p.Ser999=
XM_011521757.1:c.2997C>T	XP_011520059.1:p.Ser999=
XM_011521758.1:c.2997C>T	XP_011520060.1:p.Ser999=
XM_011521759.1:c.2997C>T	XP_011520061.1:p.Ser999=
XM_011521760.1:c.2997C>T	XP_011520062.1:p.Ser999=
XM_011521761.1:c.2997C>T	XP_011520063.1:p.Ser999=
XM_011521762.1:c.2997C>T	XP_011520064.1:p.Ser999=
XM_011521763.1:c.2955C>T	XP_011520065.1:p.Ser985=
XM_011521764.1:c.2817C>T	XP_011520066.1:p.Ser939=
XM_011521765.1:c.2718C>T	XP_011520067.1:p.Ser906=
XM_011521766.1:c.2718C>T	XP_011520068.1:p.Ser906=
XM_011521767.1:c.2718C>T	XP_011520069.1:p.Ser906=
XM_011521768.1:c.2997C>T	XP_011520070.1:p.Ser999=
XM_011521769.1:c.2652C>T	XP_011520071.1:p.Ser884=
XM_011521756.2:c.2997C>T	XP_011520058.1:p.Ser999=
XM_011521757.2:c.2997C>T	XP_011520059.1:p.Ser999=
XM_011521764.2:c.2817C>T	XP_011520066.1:p.Ser939=
XM_011521767.2:c.2718C>T	XP_011520069.1:p.Ser906=
NM_001113378.2:c.2997C>T MANE Select	NP_001106849.1:p.Ser999=
NM_001376910.1:c.2718C>T	NP_001363839.1:p.Ser906=
NM_001376911.1:c.2997C>T	NP_001363840.1:p.Ser999=
NM_018193.3:c.2817C>T	NP_060663.2:p.Ser939=