Canonical Allele Identifier: CA373305039
Community Standard Title: NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075062G>A , CM000671.2:g.35075062G>A GRCh38
NC_000009.11:g.35075059G>A , CM000671.1:g.35075059G>A GRCh37
NC_000009.10:g.35065059G>A NCBI36
NG_007312.1:g.9955C>T , LRG_499:g.9955C>T
NG_007887.1:g.2681C>T , LRG_657:g.2681C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1501C>T MANE Select NP_004620.1:p.Gln501Ter
ENST00000378643.8:c.1501C>T MANE Select ENSP00000367910.4:p.Gln501Ter
NM_004629.1:c.1501C>T , LRG_499t1:c.1501C>T NP_004620.1:p.Gln501Ter
ENST00000378643.7:c.1501C>T ENSP00000367910.3:p.Gln501Ter
ENST00000425676.5:c.*977C>T ENSP00000412793.1:n.*977C>T
ENST00000448890.2:c.1501C>T ENSP00000409607.2:p.Gln501Ter
ENST00000461149.2:n.2889C>T
ENST00000476212.1:n.45-630C>T
ENST00000481254.1:n.309C>T
ENST00000696700.1:n.2924C>T
ENST00000696701.1:n.1801C>T
ENST00000696702.1:c.*952C>T ENSP00000512821.1:n.*952C>T
ENST00000696703.1:c.*885C>T ENSP00000512822.1:n.*885C>T
ENST00000696706.1:n.1564C>T
ENST00000696707.1:n.1718C>T
ENST00000696708.1:c.*846C>T ENSP00000512825.1:n.*846C>T
ENST00000696709.1:n.2288C>T
ENST00000696710.1:c.1495C>T ENSP00000512826.1:p.Gln499Ter
ENST00000696711.1:n.3756C>T
ENST00000696712.1:n.1788C>T
ENST00000696713.1:c.1501C>T ENSP00000512827.1:p.Gln501Ter
ENST00000696714.1:n.2081C>T
ENST00000696715.1:c.1501C>T ENSP00000512828.1:p.Gln501Ter