Canonical Allele Identifier: CA340604

Gene: FANCG

Linked Data

• ClinVar Variation Id: 6714
• ClinVar RCV Id: RCV000007106 ; RCV001037690
• dbSNP Id: rs200479612
• ExAC: 9:35078601 C / G
• gnomAD v2: 9-35078601-C-G
• gnomAD v3: 9-35078604-C-G
• gnomAD v4: 9-35078604-C-G
• MyVariant Identifiers: chr9:g.35078601C>G (hg19) ; chr9:g.35078604C>G (hg38)
• PubMed: PMID:10807541 ; PMID:20301575

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35078604C>G , CM000671.2:g.35078604C>G	GRCh38
NC_000009.11:g.35078601C>G , CM000671.1:g.35078601C>G	GRCh37
NC_000009.10:g.35068601C>G	NCBI36
NG_007312.1:g.6413G>C , LRG_499:g.6413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.307+1G>C	ENSP00000409607.2:n.307+1G>C
ENST00000461149.2:n.783+1G>C
ENST00000696700.1:n.558G>C
ENST00000696701.1:n.522+1G>C
ENST00000696702.1:c.307+1G>C	ENSP00000512821.1:n.307+1G>C
ENST00000696703.1:c.307+1G>C	ENSP00000512822.1:n.307+1G>C
ENST00000696706.1:n.370+1G>C
ENST00000696707.1:n.264G>C
ENST00000696708.1:c.307+1G>C	ENSP00000512825.1:n.307+1G>C
ENST00000696709.1:n.709+1G>C
ENST00000696710.1:c.307+1G>C	ENSP00000512826.1:n.307+1G>C
ENST00000696711.1:n.655G>C
ENST00000696713.1:c.307+1G>C	ENSP00000512827.1:n.307+1G>C
ENST00000696714.1:n.986+1G>C
ENST00000696715.1:c.307+1G>C	ENSP00000512828.1:n.307+1G>C
ENST00000378643.8:c.307+1G>C MANE Select	ENSP00000367910.4:n.307+1G>C
ENST00000378643.7:c.307+1G>C	ENSP00000367910.3:n.307+1G>C
ENST00000425676.5:c.307+1G>C	ENSP00000412793.1:n.307+1G>C
ENST00000448890.1:c.307+1G>C	ENSP00000409607.1:n.307+1G>C
ENST00000461149.1:n.42+1G>C
ENST00000462124.1:n.652G>C
NM_004629.1:c.307+1G>C , LRG_499t1:c.307+1G>C	NP_004620.1:n.307+1G>C
NM_004629.2:c.307+1G>C MANE Select	NP_004620.1:n.307+1G>C