Canonical Allele Identifier: CA373308564
Community Standard Title: NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075646C>A , CM000671.2:g.35075646C>A GRCh38
NC_000009.11:g.35075643C>A , CM000671.1:g.35075643C>A GRCh37
NC_000009.10:g.35065643C>A NCBI36
NG_007312.1:g.9371G>T , LRG_499:g.9371G>T
NG_007887.1:g.2097G>T , LRG_657:g.2097G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1252G>T MANE Select NP_004620.1:p.Glu418Ter
ENST00000378643.8:c.1252G>T MANE Select ENSP00000367910.4:p.Glu418Ter
NM_004629.1:c.1252G>T , LRG_499t1:c.1252G>T NP_004620.1:p.Glu418Ter
ENST00000378643.7:c.1252G>T ENSP00000367910.3:p.Glu418Ter
ENST00000425676.5:c.*728G>T ENSP00000412793.1:n.*728G>T
ENST00000448890.2:c.1252G>T ENSP00000409607.2:p.Glu418Ter
ENST00000461149.2:n.2444G>T
ENST00000476212.1:n.44+876G>T
ENST00000696700.1:n.2479G>T
ENST00000696701.1:n.1356G>T
ENST00000696702.1:c.*703G>T ENSP00000512821.1:n.*703G>T
ENST00000696703.1:c.*636G>T ENSP00000512822.1:n.*636G>T
ENST00000696706.1:n.1315G>T
ENST00000696707.1:n.1469G>T
ENST00000696708.1:c.*597G>T ENSP00000512825.1:n.*597G>T
ENST00000696709.1:n.1843G>T
ENST00000696710.1:c.1252G>T ENSP00000512826.1:p.Glu418Ter
ENST00000696711.1:n.3311G>T
ENST00000696712.1:n.1343G>T
ENST00000696713.1:c.1252G>T ENSP00000512827.1:p.Glu418Ter
ENST00000696714.1:n.1636G>T
ENST00000696715.1:c.1252G>T ENSP00000512828.1:p.Glu418Ter