Canonical Allele Identifier: CA373310728
Community Standard Title: NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35076475G>A , CM000671.2:g.35076475G>A GRCh38
NC_000009.11:g.35076472G>A , CM000671.1:g.35076472G>A GRCh37
NC_000009.10:g.35066472G>A NCBI36
NG_007312.1:g.8542C>T , LRG_499:g.8542C>T
NG_007887.1:g.1268C>T , LRG_657:g.1268C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1033C>T MANE Select NP_004620.1:p.Gln345Ter
ENST00000378643.8:c.1033C>T MANE Select ENSP00000367910.4:p.Gln345Ter
NM_004629.1:c.1033C>T , LRG_499t1:c.1033C>T NP_004620.1:p.Gln345Ter
ENST00000378643.7:c.1033C>T ENSP00000367910.3:p.Gln345Ter
ENST00000425676.5:c.*509C>T ENSP00000412793.1:n.*509C>T
ENST00000448890.2:c.1033C>T ENSP00000409607.2:p.Gln345Ter
ENST00000461149.2:n.2250C>T
ENST00000474894.1:n.238C>T
ENST00000476212.1:n.44+47C>T
ENST00000696700.1:n.2285C>T
ENST00000696701.1:n.1137C>T
ENST00000696702.1:c.*509C>T ENSP00000512821.1:n.*509C>T
ENST00000696703.1:c.*509C>T ENSP00000512822.1:n.*509C>T
ENST00000696706.1:n.1096C>T
ENST00000696707.1:n.1250C>T
ENST00000696708.1:c.*378C>T ENSP00000512825.1:n.*378C>T
ENST00000696709.1:n.1435C>T
ENST00000696710.1:c.1033C>T ENSP00000512826.1:p.Gln345Ter
ENST00000696711.1:n.2482C>T
ENST00000696712.1:n.1149C>T
ENST00000696713.1:c.1033C>T ENSP00000512827.1:p.Gln345Ter
ENST00000696714.1:n.1509C>T
ENST00000696715.1:c.1033C>T ENSP00000512828.1:p.Gln345Ter