Canonical Allele Identifier: CA1845862615
Community Standard Title: NM_004629.2(FANCG):c.1747G= (p.Glu583=)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35074384C= , CM000671.2:g.35074384C= GRCh38
NC_000009.11:g.35074381C= , CM000671.1:g.35074381C= GRCh37
NC_000009.10:g.35064381C= NCBI36
NG_007312.1:g.10633G= , LRG_499:g.10633G=
NG_007887.1:g.3359G= , LRG_657:g.3359G=

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1747G= MANE Select NP_004620.1:p.Glu583=
ENST00000378643.8:c.1747G= MANE Select ENSP00000367910.4:p.Glu583=
NM_004629.1:c.1747G= , LRG_499t1:c.1747G= NP_004620.1:p.Glu583=
ENST00000378643.7:c.1747G= ENSP00000367910.3:p.Glu583=
ENST00000425676.5:c.*1223G= ENSP00000412793.1:n.*1223G=
ENST00000448890.2:c.1747G= ENSP00000409607.2:p.Glu583=
ENST00000461149.2:n.3567G=
ENST00000476212.1:n.93G=
ENST00000696700.1:n.3602G=
ENST00000696701.1:n.2047G=
ENST00000696702.1:c.*1198G= ENSP00000512821.1:n.*1198G=
ENST00000696703.1:c.*1131G= ENSP00000512822.1:n.*1131G=
ENST00000696706.1:n.1810G=
ENST00000696707.1:n.1964G=
ENST00000696708.1:c.*1092G= ENSP00000512825.1:n.*1092G=
ENST00000696709.1:n.2966G=
ENST00000696710.1:c.1741G= ENSP00000512826.1:p.Glu581=
ENST00000696711.1:n.4434G=
ENST00000696712.1:n.2466G=
ENST00000696713.1:c.*50G= ENSP00000512827.1:n.*50G=
ENST00000696714.1:n.2759G=
ENST00000696715.1:c.1747G= ENSP00000512828.1:p.Glu583=