Canonical Allele Identifier: CA159600
Community Standard Title: NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075025C>T , CM000671.2:g.35075025C>T GRCh38
NC_000009.11:g.35075022C>T , CM000671.1:g.35075022C>T GRCh37
NC_000009.10:g.35065022C>T NCBI36
NG_007312.1:g.9992G>A , LRG_499:g.9992G>A
NG_007887.1:g.2718G>A , LRG_657:g.2718G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1538G>A MANE Select NP_004620.1:p.Arg513Gln
ENST00000378643.8:c.1538G>A MANE Select ENSP00000367910.4:p.Arg513Gln
NM_004629.1:c.1538G>A , LRG_499t1:c.1538G>A NP_004620.1:p.Arg513Gln
ENST00000378643.7:c.1538G>A ENSP00000367910.3:p.Arg513Gln
ENST00000425676.5:c.*1014G>A ENSP00000412793.1:n.*1014G>A
ENST00000448890.2:c.1538G>A ENSP00000409607.2:p.Arg513Gln
ENST00000461149.2:n.2926G>A
ENST00000476212.1:n.45-593G>A
ENST00000481254.1:n.346G>A
ENST00000696700.1:n.2961G>A
ENST00000696701.1:n.1838G>A
ENST00000696702.1:c.*989G>A ENSP00000512821.1:n.*989G>A
ENST00000696703.1:c.*922G>A ENSP00000512822.1:n.*922G>A
ENST00000696706.1:n.1601G>A
ENST00000696707.1:n.1755G>A
ENST00000696708.1:c.*883G>A ENSP00000512825.1:n.*883G>A
ENST00000696709.1:n.2325G>A
ENST00000696710.1:c.1532G>A ENSP00000512826.1:p.Arg511Gln
ENST00000696711.1:n.3793G>A
ENST00000696712.1:n.1825G>A
ENST00000696713.1:c.1538G>A ENSP00000512827.1:p.Arg513Gln
ENST00000696714.1:n.2118G>A
ENST00000696715.1:c.1538G>A ENSP00000512828.1:p.Arg513Gln