Canonical Allele Identifier: CA5039706
Community Standard Title: NM_004629.2(FANCG):c.1521G>A (p.Ala507=)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075042C>T , CM000671.2:g.35075042C>T GRCh38
NC_000009.11:g.35075039C>T , CM000671.1:g.35075039C>T GRCh37
NC_000009.10:g.35065039C>T NCBI36
NG_007312.1:g.9975G>A , LRG_499:g.9975G>A
NG_007887.1:g.2701G>A , LRG_657:g.2701G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1521G>A MANE Select NP_004620.1:p.Ala507=
ENST00000378643.8:c.1521G>A MANE Select ENSP00000367910.4:p.Ala507=
NM_004629.1:c.1521G>A , LRG_499t1:c.1521G>A NP_004620.1:p.Ala507=
ENST00000378643.7:c.1521G>A ENSP00000367910.3:p.Ala507=
ENST00000425676.5:c.*997G>A ENSP00000412793.1:n.*997G>A
ENST00000448890.2:c.1521G>A ENSP00000409607.2:p.Ala507=
ENST00000461149.2:n.2909G>A
ENST00000476212.1:n.45-610G>A
ENST00000481254.1:n.329G>A
ENST00000696700.1:n.2944G>A
ENST00000696701.1:n.1821G>A
ENST00000696702.1:c.*972G>A ENSP00000512821.1:n.*972G>A
ENST00000696703.1:c.*905G>A ENSP00000512822.1:n.*905G>A
ENST00000696706.1:n.1584G>A
ENST00000696707.1:n.1738G>A
ENST00000696708.1:c.*866G>A ENSP00000512825.1:n.*866G>A
ENST00000696709.1:n.2308G>A
ENST00000696710.1:c.1515G>A ENSP00000512826.1:p.Ala505=
ENST00000696711.1:n.3776G>A
ENST00000696712.1:n.1808G>A
ENST00000696713.1:c.1521G>A ENSP00000512827.1:p.Ala507=
ENST00000696714.1:n.2101G>A
ENST00000696715.1:c.1521G>A ENSP00000512828.1:p.Ala507=