Canonical Allele Identifier: CA373310766
Community Standard Title: NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35076481G>A , CM000671.2:g.35076481G>A GRCh38
NC_000009.11:g.35076478G>A , CM000671.1:g.35076478G>A GRCh37
NC_000009.10:g.35066478G>A NCBI36
NG_007312.1:g.8536C>T , LRG_499:g.8536C>T
NG_007887.1:g.1262C>T , LRG_657:g.1262C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1027C>T MANE Select NP_004620.1:p.Gln343Ter
ENST00000378643.8:c.1027C>T MANE Select ENSP00000367910.4:p.Gln343Ter
NM_004629.1:c.1027C>T , LRG_499t1:c.1027C>T NP_004620.1:p.Gln343Ter
ENST00000378643.7:c.1027C>T ENSP00000367910.3:p.Gln343Ter
ENST00000425676.5:c.*503C>T ENSP00000412793.1:n.*503C>T
ENST00000448890.2:c.1027C>T ENSP00000409607.2:p.Gln343Ter
ENST00000461149.2:n.2244C>T
ENST00000474894.1:n.232C>T
ENST00000476212.1:n.44+41C>T
ENST00000696700.1:n.2279C>T
ENST00000696701.1:n.1131C>T
ENST00000696702.1:c.*503C>T ENSP00000512821.1:n.*503C>T
ENST00000696703.1:c.*503C>T ENSP00000512822.1:n.*503C>T
ENST00000696706.1:n.1090C>T
ENST00000696707.1:n.1244C>T
ENST00000696708.1:c.*372C>T ENSP00000512825.1:n.*372C>T
ENST00000696709.1:n.1429C>T
ENST00000696710.1:c.1027C>T ENSP00000512826.1:p.Gln343Ter
ENST00000696711.1:n.2476C>T
ENST00000696712.1:n.1143C>T
ENST00000696713.1:c.1027C>T ENSP00000512827.1:p.Gln343Ter
ENST00000696714.1:n.1503C>T
ENST00000696715.1:c.1027C>T ENSP00000512828.1:p.Gln343Ter