Canonical Allele Identifier: CA5039842

Gene: FANCG

Linked Data

• ClinVar Variation Id: 445394
• ClinVar RCV Id: RCV000514018 ; RCV000695845 ; RCV000760153
• dbSNP Id: rs769547477
• ExAC: 9:35076027 T / C
• gnomAD v2: 9-35076027-T-C
• gnomAD v4: 9-35076030-T-C
• MyVariant Identifiers: chr9:g.35076027T>C (hg19) ; chr9:g.35076030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35076030T>C , CM000671.2:g.35076030T>C	GRCh38
NC_000009.11:g.35076027T>C , CM000671.1:g.35076027T>C	GRCh37
NC_000009.10:g.35066027T>C	NCBI36
NG_007312.1:g.8987A>G , LRG_499:g.8987A>G
NG_007887.1:g.1713A>G , LRG_657:g.1713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.1077-2A>G	ENSP00000409607.2:n.1077-2A>G
ENST00000461149.2:n.2294-2A>G
ENST00000696700.1:n.2329-2A>G
ENST00000696701.1:n.1181-2A>G
ENST00000696702.1:c.*553-2A>G	ENSP00000512821.1:n.*553-2A>G
ENST00000696703.1:c.*553-301A>G	ENSP00000512822.1:n.*553-301A>G
ENST00000696706.1:n.1140-2A>G
ENST00000696707.1:n.1294-2A>G
ENST00000696708.1:c.*422-2A>G	ENSP00000512825.1:n.*422-2A>G
ENST00000696709.1:n.1461-2A>G
ENST00000696710.1:c.1077-2A>G	ENSP00000512826.1:n.1077-2A>G
ENST00000696711.1:n.2927A>G
ENST00000696712.1:n.1193-2A>G
ENST00000696713.1:c.1077-2A>G	ENSP00000512827.1:n.1077-2A>G
ENST00000696714.1:n.1553-301A>G
ENST00000696715.1:c.1077-2A>G	ENSP00000512828.1:n.1077-2A>G
ENST00000378643.8:c.1077-2A>G MANE Select	ENSP00000367910.4:n.1077-2A>G
ENST00000378643.7:c.1077-2A>G	ENSP00000367910.3:n.1077-2A>G
ENST00000425676.5:c.*553-2A>G	ENSP00000412793.1:n.*553-2A>G
ENST00000476212.1:n.44+492A>G
NM_004629.1:c.1077-2A>G , LRG_499t1:c.1077-2A>G	NP_004620.1:n.1077-2A>G
NM_004629.2:c.1077-2A>G MANE Select	NP_004620.1:n.1077-2A>G