Canonical Allele Identifier: CA5039615

Gene: FANCG

Linked Data

• ClinVar Variation Id: 526450
• ClinVar RCV Id: RCV000630982
• dbSNP Id: rs756632525
• ExAC: 9:35074168 G / A
• gnomAD v2: 9-35074168-G-A
• gnomAD v3: 9-35074171-G-A
• gnomAD v4: 9-35074171-G-A
• MyVariant Identifiers: chr9:g.35074168G>A (hg19) ; chr9:g.35074171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35074171G>A , CM000671.2:g.35074171G>A	GRCh38
NC_000009.11:g.35074168G>A , CM000671.1:g.35074168G>A	GRCh37
NC_000009.10:g.35064168G>A	NCBI36
NG_007312.1:g.10846C>T , LRG_499:g.10846C>T
NG_007887.1:g.3572C>T , LRG_657:g.3572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.1806C>T	ENSP00000409607.2:p.Pro602=
ENST00000461149.2:n.3780C>T
ENST00000696700.1:n.3661C>T
ENST00000696701.1:n.2106C>T
ENST00000696702.1:c.*1257C>T	ENSP00000512821.1:n.*1257C>T
ENST00000696703.1:c.*1190C>T	ENSP00000512822.1:n.*1190C>T
ENST00000696706.1:n.1869C>T
ENST00000696707.1:n.2023C>T
ENST00000696708.1:c.*1151C>T	ENSP00000512825.1:n.*1151C>T
ENST00000696709.1:n.3179C>T
ENST00000696710.1:c.1800C>T	ENSP00000512826.1:p.Pro600=
ENST00000696711.1:n.4647C>T
ENST00000696712.1:n.2525C>T
ENST00000696713.1:c.*109C>T	ENSP00000512827.1:n.*109C>T
ENST00000696714.1:n.2972C>T
ENST00000696715.1:c.*196C>T	ENSP00000512828.1:n.*196C>T
ENST00000378643.8:c.1806C>T MANE Select	ENSP00000367910.4:p.Pro602=
ENST00000681845.1:c.5C>T
ENST00000378643.7:c.1806C>T	ENSP00000367910.3:p.Pro602=
ENST00000425676.5:c.*1282C>T	ENSP00000412793.1:n.*1282C>T
ENST00000476212.1:n.152C>T
NM_004629.1:c.1806C>T , LRG_499t1:c.1806C>T	NP_004620.1:p.Pro602=
NM_004629.2:c.1806C>T MANE Select	NP_004620.1:p.Pro602=