Canonical Allele Identifier: CA373307178
Community Standard Title: NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075523G>A , CM000671.2:g.35075523G>A GRCh38
NC_000009.11:g.35075520G>A , CM000671.1:g.35075520G>A GRCh37
NC_000009.10:g.35065520G>A NCBI36
NG_007312.1:g.9494C>T , LRG_499:g.9494C>T
NG_007887.1:g.2220C>T , LRG_657:g.2220C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1375C>T MANE Select NP_004620.1:p.Gln459Ter
ENST00000378643.8:c.1375C>T MANE Select ENSP00000367910.4:p.Gln459Ter
NM_004629.1:c.1375C>T , LRG_499t1:c.1375C>T NP_004620.1:p.Gln459Ter
ENST00000378643.7:c.1375C>T ENSP00000367910.3:p.Gln459Ter
ENST00000425676.5:c.*851C>T ENSP00000412793.1:n.*851C>T
ENST00000448890.2:c.1375C>T ENSP00000409607.2:p.Gln459Ter
ENST00000461149.2:n.2567C>T
ENST00000476212.1:n.44+999C>T
ENST00000696700.1:n.2602C>T
ENST00000696701.1:n.1479C>T
ENST00000696702.1:c.*826C>T ENSP00000512821.1:n.*826C>T
ENST00000696703.1:c.*759C>T ENSP00000512822.1:n.*759C>T
ENST00000696706.1:n.1438C>T
ENST00000696707.1:n.1592C>T
ENST00000696708.1:c.*720C>T ENSP00000512825.1:n.*720C>T
ENST00000696709.1:n.1966C>T
ENST00000696710.1:c.1375C>T ENSP00000512826.1:p.Gln459Ter
ENST00000696711.1:n.3434C>T
ENST00000696712.1:n.1466C>T
ENST00000696713.1:c.1375C>T ENSP00000512827.1:p.Gln459Ter
ENST00000696714.1:n.1759C>T
ENST00000696715.1:c.1375C>T ENSP00000512828.1:p.Gln459Ter