Canonical Allele Identifier: CA373314114
Community Standard Title: NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35077338A>C , CM000671.2:g.35077338A>C GRCh38
NC_000009.11:g.35077335A>C , CM000671.1:g.35077335A>C GRCh37
NC_000009.10:g.35067335A>C NCBI36
NG_007312.1:g.7679T>G , LRG_499:g.7679T>G
NG_007887.1:g.405T>G , LRG_657:g.405T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.572T>G MANE Select NP_004620.1:p.Leu191Ter
ENST00000378643.8:c.572T>G MANE Select ENSP00000367910.4:p.Leu191Ter
NM_004629.1:c.572T>G , LRG_499t1:c.572T>G NP_004620.1:p.Leu191Ter
ENST00000378643.7:c.572T>G ENSP00000367910.3:p.Leu191Ter
ENST00000425676.5:c.*48T>G ENSP00000412793.1:n.*48T>G
ENST00000448890.1:c.572T>G ENSP00000409607.1:p.Leu191Ter
ENST00000448890.2:c.572T>G ENSP00000409607.2:p.Leu191Ter
ENST00000461149.2:n.1789T>G
ENST00000696700.1:n.1824T>G
ENST00000696701.1:n.676T>G
ENST00000696702.1:c.*48T>G ENSP00000512821.1:n.*48T>G
ENST00000696703.1:c.*48T>G ENSP00000512822.1:n.*48T>G
ENST00000696706.1:n.635T>G
ENST00000696707.1:n.789T>G
ENST00000696708.1:c.*48T>G ENSP00000512825.1:n.*48T>G
ENST00000696709.1:n.974T>G
ENST00000696710.1:c.572T>G ENSP00000512826.1:p.Leu191Ter
ENST00000696711.1:n.1921T>G
ENST00000696712.1:n.659T>G
ENST00000696713.1:c.572T>G ENSP00000512827.1:p.Leu191Ter
ENST00000696714.1:n.1048T>G
ENST00000696715.1:c.572T>G ENSP00000512828.1:p.Leu191Ter