Canonical Allele Identifier: CA5039779
Community Standard Title: NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075606A>C , CM000671.2:g.35075606A>C GRCh38
NC_000009.11:g.35075603A>C , CM000671.1:g.35075603A>C GRCh37
NC_000009.10:g.35065603A>C NCBI36
NG_007312.1:g.9411T>G , LRG_499:g.9411T>G
NG_007887.1:g.2137T>G , LRG_657:g.2137T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1292T>G MANE Select NP_004620.1:p.Met431Arg
ENST00000378643.8:c.1292T>G MANE Select ENSP00000367910.4:p.Met431Arg
NM_004629.1:c.1292T>G , LRG_499t1:c.1292T>G NP_004620.1:p.Met431Arg
ENST00000378643.7:c.1292T>G ENSP00000367910.3:p.Met431Arg
ENST00000425676.5:c.*768T>G ENSP00000412793.1:n.*768T>G
ENST00000448890.2:c.1292T>G ENSP00000409607.2:p.Met431Arg
ENST00000461149.2:n.2484T>G
ENST00000476212.1:n.44+916T>G
ENST00000696700.1:n.2519T>G
ENST00000696701.1:n.1396T>G
ENST00000696702.1:c.*743T>G ENSP00000512821.1:n.*743T>G
ENST00000696703.1:c.*676T>G ENSP00000512822.1:n.*676T>G
ENST00000696706.1:n.1355T>G
ENST00000696707.1:n.1509T>G
ENST00000696708.1:c.*637T>G ENSP00000512825.1:n.*637T>G
ENST00000696709.1:n.1883T>G
ENST00000696710.1:c.1292T>G ENSP00000512826.1:p.Met431Arg
ENST00000696711.1:n.3351T>G
ENST00000696712.1:n.1383T>G
ENST00000696713.1:c.1292T>G ENSP00000512827.1:p.Met431Arg
ENST00000696714.1:n.1676T>G
ENST00000696715.1:c.1292T>G ENSP00000512828.1:p.Met431Arg