Canonical Allele Identifier: CA373305694
Community Standard Title: NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075291C>A , CM000671.2:g.35075291C>A GRCh38
NC_000009.11:g.35075288C>A , CM000671.1:g.35075288C>A GRCh37
NC_000009.10:g.35065288C>A NCBI36
NG_007312.1:g.9726G>T , LRG_499:g.9726G>T
NG_007887.1:g.2452G>T , LRG_657:g.2452G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1468G>T MANE Select NP_004620.1:p.Glu490Ter
ENST00000378643.8:c.1468G>T MANE Select ENSP00000367910.4:p.Glu490Ter
NM_004629.1:c.1468G>T , LRG_499t1:c.1468G>T NP_004620.1:p.Glu490Ter
ENST00000378643.7:c.1468G>T ENSP00000367910.3:p.Glu490Ter
ENST00000425676.5:c.*944G>T ENSP00000412793.1:n.*944G>T
ENST00000448890.2:c.1468G>T ENSP00000409607.2:p.Glu490Ter
ENST00000461149.2:n.2660G>T
ENST00000476212.1:n.45-859G>T
ENST00000481254.1:n.80G>T
ENST00000696700.1:n.2695G>T
ENST00000696701.1:n.1572G>T
ENST00000696702.1:c.*919G>T ENSP00000512821.1:n.*919G>T
ENST00000696703.1:c.*852G>T ENSP00000512822.1:n.*852G>T
ENST00000696706.1:n.1531G>T
ENST00000696707.1:n.1685G>T
ENST00000696708.1:c.*813G>T ENSP00000512825.1:n.*813G>T
ENST00000696709.1:n.2059G>T
ENST00000696710.1:c.1468G>T ENSP00000512826.1:p.Glu490Ter
ENST00000696711.1:n.3527G>T
ENST00000696712.1:n.1559G>T
ENST00000696713.1:c.1468G>T ENSP00000512827.1:p.Glu490Ter
ENST00000696714.1:n.1852G>T
ENST00000696715.1:c.1468G>T ENSP00000512828.1:p.Glu490Ter