Canonical Allele Identifier: CA159610

Gene: FANCG

Linked Data

• ClinVar Variation Id: 134365
• ClinVar RCV Id: RCV000121039 ; RCV000631014 ; RCV001166627
• dbSNP Id: rs546023787
• ExAC: 9:35078282 C / G
• gnomAD v2: 9-35078282-C-G
• gnomAD v3: 9-35078285-C-G
• gnomAD v4: 9-35078285-C-G
• MyVariant Identifiers: chr9:g.35078282C>G (hg19) ; chr9:g.35078285C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35078285C>G , CM000671.2:g.35078285C>G	GRCh38
NC_000009.11:g.35078282C>G , CM000671.1:g.35078282C>G	GRCh37
NC_000009.10:g.35068282C>G	NCBI36
NG_007312.1:g.6732G>C , LRG_499:g.6732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.366G>C	ENSP00000409607.2:p.Trp122Cys
ENST00000461149.2:n.842G>C
ENST00000696700.1:n.877G>C
ENST00000696701.1:n.523-208G>C
ENST00000696702.1:c.307+320G>C	ENSP00000512821.1:n.307+320G>C
ENST00000696703.1:c.307+320G>C	ENSP00000512822.1:n.307+320G>C
ENST00000696706.1:n.429G>C
ENST00000696707.1:n.583G>C
ENST00000696708.1:c.307+320G>C	ENSP00000512825.1:n.307+320G>C
ENST00000696709.1:n.768G>C
ENST00000696710.1:c.366G>C	ENSP00000512826.1:p.Trp122Cys
ENST00000696711.1:n.974G>C
ENST00000696713.1:c.366G>C	ENSP00000512827.1:p.Trp122Cys
ENST00000696714.1:n.986+320G>C
ENST00000696715.1:c.366G>C	ENSP00000512828.1:p.Trp122Cys
ENST00000378643.8:c.366G>C MANE Select	ENSP00000367910.4:p.Trp122Cys
ENST00000378643.7:c.366G>C	ENSP00000367910.3:p.Trp122Cys
ENST00000425676.5:c.307+320G>C	ENSP00000412793.1:n.307+320G>C
ENST00000448890.1:c.366G>C	ENSP00000409607.1:p.Trp122Cys
ENST00000461149.1:n.101G>C
NM_004629.1:c.366G>C , LRG_499t1:c.366G>C	NP_004620.1:p.Trp122Cys
NM_004629.2:c.366G>C MANE Select	NP_004620.1:p.Trp122Cys