Canonical Allele Identifier: CA5039707
Community Standard Title: NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075043G>A , CM000671.2:g.35075043G>A GRCh38
NC_000009.11:g.35075040G>A , CM000671.1:g.35075040G>A GRCh37
NC_000009.10:g.35065040G>A NCBI36
NG_007312.1:g.9974C>T , LRG_499:g.9974C>T
NG_007887.1:g.2700C>T , LRG_657:g.2700C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1520C>T MANE Select NP_004620.1:p.Ala507Val
ENST00000378643.8:c.1520C>T MANE Select ENSP00000367910.4:p.Ala507Val
NM_004629.1:c.1520C>T , LRG_499t1:c.1520C>T NP_004620.1:p.Ala507Val
ENST00000378643.7:c.1520C>T ENSP00000367910.3:p.Ala507Val
ENST00000425676.5:c.*996C>T ENSP00000412793.1:n.*996C>T
ENST00000448890.2:c.1520C>T ENSP00000409607.2:p.Ala507Val
ENST00000461149.2:n.2908C>T
ENST00000476212.1:n.45-611C>T
ENST00000481254.1:n.328C>T
ENST00000696700.1:n.2943C>T
ENST00000696701.1:n.1820C>T
ENST00000696702.1:c.*971C>T ENSP00000512821.1:n.*971C>T
ENST00000696703.1:c.*904C>T ENSP00000512822.1:n.*904C>T
ENST00000696706.1:n.1583C>T
ENST00000696707.1:n.1737C>T
ENST00000696708.1:c.*865C>T ENSP00000512825.1:n.*865C>T
ENST00000696709.1:n.2307C>T
ENST00000696710.1:c.1514C>T ENSP00000512826.1:p.Ala505Val
ENST00000696711.1:n.3775C>T
ENST00000696712.1:n.1807C>T
ENST00000696713.1:c.1520C>T ENSP00000512827.1:p.Ala507Val
ENST00000696714.1:n.2100C>T
ENST00000696715.1:c.1520C>T ENSP00000512828.1:p.Ala507Val