Canonical Allele Identifier: CA5039873
Community Standard Title: NM_004629.2(FANCG):c.999C>T (p.Asp333=)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35076509G>A , CM000671.2:g.35076509G>A GRCh38
NC_000009.11:g.35076506G>A , CM000671.1:g.35076506G>A GRCh37
NC_000009.10:g.35066506G>A NCBI36
NG_007312.1:g.8508C>T , LRG_499:g.8508C>T
NG_007887.1:g.1234C>T , LRG_657:g.1234C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.999C>T MANE Select NP_004620.1:p.Asp333=
ENST00000378643.8:c.999C>T MANE Select ENSP00000367910.4:p.Asp333=
NM_004629.1:c.999C>T , LRG_499t1:c.999C>T NP_004620.1:p.Asp333=
ENST00000378643.7:c.999C>T ENSP00000367910.3:p.Asp333=
ENST00000425676.5:c.*475C>T ENSP00000412793.1:n.*475C>T
ENST00000448890.2:c.999C>T ENSP00000409607.2:p.Asp333=
ENST00000461149.2:n.2216C>T
ENST00000474894.1:n.204C>T
ENST00000476212.1:n.44+13C>T
ENST00000696700.1:n.2251C>T
ENST00000696701.1:n.1103C>T
ENST00000696702.1:c.*475C>T ENSP00000512821.1:n.*475C>T
ENST00000696703.1:c.*475C>T ENSP00000512822.1:n.*475C>T
ENST00000696706.1:n.1062C>T
ENST00000696707.1:n.1216C>T
ENST00000696708.1:c.*344C>T ENSP00000512825.1:n.*344C>T
ENST00000696709.1:n.1401C>T
ENST00000696710.1:c.999C>T ENSP00000512826.1:p.Asp333=
ENST00000696711.1:n.2448C>T
ENST00000696712.1:n.1115C>T
ENST00000696713.1:c.999C>T ENSP00000512827.1:p.Asp333=
ENST00000696714.1:n.1475C>T
ENST00000696715.1:c.999C>T ENSP00000512828.1:p.Asp333=