Canonical Allele Identifier: CA373313504
Community Standard Title: NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35077009G>A , CM000671.2:g.35077009G>A GRCh38
NC_000009.11:g.35077006G>A , CM000671.1:g.35077006G>A GRCh37
NC_000009.10:g.35067006G>A NCBI36
NG_007312.1:g.8008C>T , LRG_499:g.8008C>T
NG_007887.1:g.734C>T , LRG_657:g.734C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.739C>T MANE Select NP_004620.1:p.Gln247Ter
ENST00000378643.8:c.739C>T MANE Select ENSP00000367910.4:p.Gln247Ter
NM_004629.1:c.739C>T , LRG_499t1:c.739C>T NP_004620.1:p.Gln247Ter
ENST00000378643.7:c.739C>T ENSP00000367910.3:p.Gln247Ter
ENST00000425676.5:c.*215C>T ENSP00000412793.1:n.*215C>T
ENST00000448890.2:c.739C>T ENSP00000409607.2:p.Gln247Ter
ENST00000461149.2:n.1956C>T
ENST00000696700.1:n.1991C>T
ENST00000696701.1:n.843C>T
ENST00000696702.1:c.*215C>T ENSP00000512821.1:n.*215C>T
ENST00000696703.1:c.*215C>T ENSP00000512822.1:n.*215C>T
ENST00000696706.1:n.802C>T
ENST00000696707.1:n.956C>T
ENST00000696708.1:c.*123-139C>T ENSP00000512825.1:n.*123-139C>T
ENST00000696709.1:n.1141C>T
ENST00000696710.1:c.739C>T ENSP00000512826.1:p.Gln247Ter
ENST00000696711.1:n.2088C>T
ENST00000696712.1:n.826C>T
ENST00000696713.1:c.739C>T ENSP00000512827.1:p.Gln247Ter
ENST00000696714.1:n.1215C>T
ENST00000696715.1:c.739C>T ENSP00000512828.1:p.Gln247Ter