Canonical Allele Identifier: CA373303189
Community Standard Title: NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35074927C>G , CM000671.2:g.35074927C>G GRCh38
NC_000009.11:g.35074924C>G , CM000671.1:g.35074924C>G GRCh37
NC_000009.10:g.35064924C>G NCBI36
NG_007312.1:g.10090G>C , LRG_499:g.10090G>C
NG_007887.1:g.2816G>C , LRG_657:g.2816G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1636G>C MANE Select NP_004620.1:p.Gly546Arg
ENST00000378643.8:c.1636G>C MANE Select ENSP00000367910.4:p.Gly546Arg
NM_004629.1:c.1636G>C , LRG_499t1:c.1636G>C NP_004620.1:p.Gly546Arg
ENST00000378643.7:c.1636G>C ENSP00000367910.3:p.Gly546Arg
ENST00000425676.5:c.*1112G>C ENSP00000412793.1:n.*1112G>C
ENST00000448890.2:c.1636G>C ENSP00000409607.2:p.Gly546Arg
ENST00000461149.2:n.3024G>C
ENST00000476212.1:n.45-495G>C
ENST00000481254.1:n.444G>C
ENST00000696700.1:n.3059G>C
ENST00000696701.1:n.1936G>C
ENST00000696702.1:c.*1087G>C ENSP00000512821.1:n.*1087G>C
ENST00000696703.1:c.*1020G>C ENSP00000512822.1:n.*1020G>C
ENST00000696706.1:n.1699G>C
ENST00000696707.1:n.1853G>C
ENST00000696708.1:c.*981G>C ENSP00000512825.1:n.*981G>C
ENST00000696709.1:n.2423G>C
ENST00000696710.1:c.1630G>C ENSP00000512826.1:p.Gly544Arg
ENST00000696711.1:n.3891G>C
ENST00000696712.1:n.1923G>C
ENST00000696713.1:c.1636G>C ENSP00000512827.1:p.Asp546His
ENST00000696714.1:n.2216G>C
ENST00000696715.1:c.1636G>C ENSP00000512828.1:p.Gly546Arg