Canonical Allele Identifier: CA373300092
Community Standard Title: NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35074214G>A , CM000671.2:g.35074214G>A GRCh38
NC_000009.11:g.35074211G>A , CM000671.1:g.35074211G>A GRCh37
NC_000009.10:g.35064211G>A NCBI36
NG_007312.1:g.10803C>T , LRG_499:g.10803C>T
NG_007887.1:g.3529C>T , LRG_657:g.3529C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1763C>T MANE Select NP_004620.1:p.Ser588Phe
ENST00000378643.8:c.1763C>T MANE Select ENSP00000367910.4:p.Ser588Phe
NM_004629.1:c.1763C>T , LRG_499t1:c.1763C>T NP_004620.1:p.Ser588Phe
ENST00000378643.7:c.1763C>T ENSP00000367910.3:p.Ser588Phe
ENST00000425676.5:c.*1239C>T ENSP00000412793.1:n.*1239C>T
ENST00000448890.2:c.1763C>T ENSP00000409607.2:p.Ser588Phe
ENST00000461149.2:n.3737C>T
ENST00000476212.1:n.109C>T
ENST00000696700.1:n.3618C>T
ENST00000696701.1:n.2063C>T
ENST00000696702.1:c.*1214C>T ENSP00000512821.1:n.*1214C>T
ENST00000696703.1:c.*1147C>T ENSP00000512822.1:n.*1147C>T
ENST00000696706.1:n.1826C>T
ENST00000696707.1:n.1980C>T
ENST00000696708.1:c.*1108C>T ENSP00000512825.1:n.*1108C>T
ENST00000696709.1:n.3136C>T
ENST00000696710.1:c.1757C>T ENSP00000512826.1:p.Ser586Phe
ENST00000696711.1:n.4604C>T
ENST00000696712.1:n.2482C>T
ENST00000696713.1:c.*66C>T ENSP00000512827.1:n.*66C>T
ENST00000696714.1:n.2929C>T
ENST00000696715.1:c.*153C>T ENSP00000512828.1:n.*153C>T