Canonical Allele Identifier: CA5039658
Community Standard Title: NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35074489G>A , CM000671.2:g.35074489G>A GRCh38
NC_000009.11:g.35074486G>A , CM000671.1:g.35074486G>A GRCh37
NC_000009.10:g.35064486G>A NCBI36
NG_007312.1:g.10528C>T , LRG_499:g.10528C>T
NG_007887.1:g.3254C>T , LRG_657:g.3254C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1642C>T MANE Select NP_004620.1:p.Arg548Ter
ENST00000378643.8:c.1642C>T MANE Select ENSP00000367910.4:p.Arg548Ter
NM_004629.1:c.1642C>T , LRG_499t1:c.1642C>T NP_004620.1:p.Arg548Ter
ENST00000378643.7:c.1642C>T ENSP00000367910.3:p.Arg548Ter
ENST00000425676.5:c.*1118C>T ENSP00000412793.1:n.*1118C>T
ENST00000448890.2:c.1642C>T ENSP00000409607.2:p.Arg548Ter
ENST00000461149.2:n.3462C>T
ENST00000476212.1:n.45-57C>T
ENST00000696700.1:n.3497C>T
ENST00000696701.1:n.1942C>T
ENST00000696702.1:c.*1093C>T ENSP00000512821.1:n.*1093C>T
ENST00000696703.1:c.*1026C>T ENSP00000512822.1:n.*1026C>T
ENST00000696706.1:n.1705C>T
ENST00000696707.1:n.1859C>T
ENST00000696708.1:c.*987C>T ENSP00000512825.1:n.*987C>T
ENST00000696709.1:n.2861C>T
ENST00000696710.1:c.1636C>T ENSP00000512826.1:p.Arg546Ter
ENST00000696711.1:n.4329C>T
ENST00000696712.1:n.2361C>T
ENST00000696713.1:c.1637-27C>T ENSP00000512827.1:n.1637-27C>T
ENST00000696714.1:n.2654C>T
ENST00000696715.1:c.1642C>T ENSP00000512828.1:p.Arg548Ter