Canonical Allele Identifier: CA349730

Gene: FANCG

Linked Data

• ClinVar Variation Id: 221037
• ClinVar RCV Id: RCV000205598 ; RCV000502118 ; RCV001449943 ; RCV002515531 ; RCV003237771
• dbSNP Id: rs201438531
• ExAC: 9:35077023 G / A
• gnomAD v2: 9-35077023-G-A
• gnomAD v3: 9-35077026-G-A
• gnomAD v4: 9-35077026-G-A
• MyVariant Identifiers: chr9:g.35077023G>A (hg19) ; chr9:g.35077026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35077026G>A , CM000671.2:g.35077026G>A	GRCh38
NC_000009.11:g.35077023G>A , CM000671.1:g.35077023G>A	GRCh37
NC_000009.10:g.35067023G>A	NCBI36
NG_007312.1:g.7991C>T , LRG_499:g.7991C>T
NG_007887.1:g.717C>T , LRG_657:g.717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448890.2:c.722C>T	ENSP00000409607.2:p.Pro241Leu
ENST00000461149.2:n.1939C>T
ENST00000696700.1:n.1974C>T
ENST00000696701.1:n.826C>T
ENST00000696702.1:c.*198C>T	ENSP00000512821.1:n.*198C>T
ENST00000696703.1:c.*198C>T	ENSP00000512822.1:n.*198C>T
ENST00000696706.1:n.785C>T
ENST00000696707.1:n.939C>T
ENST00000696708.1:c.*123-156C>T	ENSP00000512825.1:n.*123-156C>T
ENST00000696709.1:n.1124C>T
ENST00000696710.1:c.722C>T	ENSP00000512826.1:p.Pro241Leu
ENST00000696711.1:n.2071C>T
ENST00000696712.1:n.809C>T
ENST00000696713.1:c.722C>T	ENSP00000512827.1:p.Pro241Leu
ENST00000696714.1:n.1198C>T
ENST00000696715.1:c.722C>T	ENSP00000512828.1:p.Pro241Leu
ENST00000378643.8:c.722C>T MANE Select	ENSP00000367910.4:p.Pro241Leu
ENST00000378643.7:c.722C>T	ENSP00000367910.3:p.Pro241Leu
ENST00000425676.5:c.*198C>T	ENSP00000412793.1:n.*198C>T
NM_004629.1:c.722C>T , LRG_499t1:c.722C>T	NP_004620.1:p.Pro241Leu
NM_004629.2:c.722C>T MANE Select	NP_004620.1:p.Pro241Leu