Canonical Allele Identifier: CA340606

Gene: FANCG

Linked Data

• ClinVar Variation Id: 6717
• ClinVar RCV Id: RCV000007109 ; RCV000630837 ; RCV001564939
• dbSNP Id: rs149616199
• ExAC: 9:35075275 C / G
• gnomAD v2: 9-35075275-C-G
• gnomAD v3: 9-35075278-C-G
• gnomAD v4: 9-35075278-C-G
• MyVariant Identifiers: chr9:g.35075275C>G (hg19) ; chr9:g.35075278C>G (hg38)
• PubMed: PMID:12552564 ; PMID:20301575

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35075278C>G , CM000671.2:g.35075278C>G	GRCh38
NC_000009.11:g.35075275C>G , CM000671.1:g.35075275C>G	GRCh37
NC_000009.10:g.35065275C>G	NCBI36
NG_007312.1:g.9739G>C , LRG_499:g.9739G>C
NG_007887.1:g.2465G>C , LRG_657:g.2465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.1480+1G>C	ENSP00000409607.2:n.1480+1G>C
ENST00000461149.2:n.2673G>C
ENST00000696700.1:n.2708G>C
ENST00000696701.1:n.1585G>C
ENST00000696702.1:c.*931+1G>C	ENSP00000512821.1:n.*931+1G>C
ENST00000696703.1:c.*864+1G>C	ENSP00000512822.1:n.*864+1G>C
ENST00000696706.1:n.1543+1G>C
ENST00000696707.1:n.1697+1G>C
ENST00000696708.1:c.*825+1G>C	ENSP00000512825.1:n.*825+1G>C
ENST00000696709.1:n.2072G>C
ENST00000696710.1:c.1480+1G>C	ENSP00000512826.1:n.1480+1G>C
ENST00000696711.1:n.3540G>C
ENST00000696712.1:n.1572G>C
ENST00000696713.1:c.1480+1G>C	ENSP00000512827.1:n.1480+1G>C
ENST00000696714.1:n.1865G>C
ENST00000696715.1:c.1480+1G>C	ENSP00000512828.1:n.1480+1G>C
ENST00000378643.8:c.1480+1G>C MANE Select	ENSP00000367910.4:n.1480+1G>C
ENST00000378643.7:c.1480+1G>C	ENSP00000367910.3:n.1480+1G>C
ENST00000425676.5:c.*956+1G>C	ENSP00000412793.1:n.*956+1G>C
ENST00000476212.1:n.45-846G>C
ENST00000481254.1:n.93G>C
NM_004629.1:c.1480+1G>C , LRG_499t1:c.1480+1G>C	NP_004620.1:n.1480+1G>C
NM_004629.2:c.1480+1G>C MANE Select	NP_004620.1:n.1480+1G>C