Canonical Allele Identifier: CA373310612
Community Standard Title: NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35076446G>T , CM000671.2:g.35076446G>T GRCh38
NC_000009.11:g.35076443G>T , CM000671.1:g.35076443G>T GRCh37
NC_000009.10:g.35066443G>T NCBI36
NG_007312.1:g.8571C>A , LRG_499:g.8571C>A
NG_007887.1:g.1297C>A , LRG_657:g.1297C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1062C>A MANE Select NP_004620.1:p.Cys354Ter
ENST00000378643.8:c.1062C>A MANE Select ENSP00000367910.4:p.Cys354Ter
NM_004629.1:c.1062C>A , LRG_499t1:c.1062C>A NP_004620.1:p.Cys354Ter
ENST00000378643.7:c.1062C>A ENSP00000367910.3:p.Cys354Ter
ENST00000425676.5:c.*538C>A ENSP00000412793.1:n.*538C>A
ENST00000448890.2:c.1062C>A ENSP00000409607.2:p.Cys354Ter
ENST00000461149.2:n.2279C>A
ENST00000474894.1:n.267C>A
ENST00000476212.1:n.44+76C>A
ENST00000696700.1:n.2314C>A
ENST00000696701.1:n.1166C>A
ENST00000696702.1:c.*538C>A ENSP00000512821.1:n.*538C>A
ENST00000696703.1:c.*538C>A ENSP00000512822.1:n.*538C>A
ENST00000696706.1:n.1125C>A
ENST00000696707.1:n.1279C>A
ENST00000696708.1:c.*407C>A ENSP00000512825.1:n.*407C>A
ENST00000696709.1:n.1460+4C>A
ENST00000696710.1:c.1062C>A ENSP00000512826.1:p.Cys354Ter
ENST00000696711.1:n.2511C>A
ENST00000696712.1:n.1178C>A
ENST00000696713.1:c.1062C>A ENSP00000512827.1:p.Cys354Ter
ENST00000696714.1:n.1538C>A
ENST00000696715.1:c.1062C>A ENSP00000512828.1:p.Cys354Ter