Canonical Allele Identifier: CA192695046
Community Standard Title: NM_004629.2(FANCG):c.646+1G>T
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35077263C>A , CM000671.2:g.35077263C>A GRCh38
NC_000009.11:g.35077260C>A , CM000671.1:g.35077260C>A GRCh37
NC_000009.10:g.35067260C>A NCBI36
NG_007312.1:g.7754G>T , LRG_499:g.7754G>T
NG_007887.1:g.480G>T , LRG_657:g.480G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.646+1G>T MANE Select NP_004620.1:n.646+1G>T
ENST00000378643.8:c.646+1G>T MANE Select ENSP00000367910.4:n.646+1G>T
NM_004629.1:c.646+1G>T , LRG_499t1:c.646+1G>T NP_004620.1:n.646+1G>T
ENST00000378643.7:c.646+1G>T ENSP00000367910.3:n.646+1G>T
ENST00000425676.5:c.*122+1G>T ENSP00000412793.1:n.*122+1G>T
ENST00000448890.2:c.646+1G>T ENSP00000409607.2:n.646+1G>T
ENST00000461149.2:n.1863+1G>T
ENST00000696700.1:n.1898+1G>T
ENST00000696701.1:n.750+1G>T
ENST00000696702.1:c.*122+1G>T ENSP00000512821.1:n.*122+1G>T
ENST00000696703.1:c.*122+1G>T ENSP00000512822.1:n.*122+1G>T
ENST00000696706.1:n.709+1G>T
ENST00000696707.1:n.863+1G>T
ENST00000696708.1:c.*122+1G>T ENSP00000512825.1:n.*122+1G>T
ENST00000696709.1:n.1048+1G>T
ENST00000696710.1:c.646+1G>T ENSP00000512826.1:n.646+1G>T
ENST00000696711.1:n.1995+1G>T
ENST00000696712.1:n.733+1G>T
ENST00000696713.1:c.646+1G>T ENSP00000512827.1:n.646+1G>T
ENST00000696714.1:n.1122+1G>T
ENST00000696715.1:c.646+1G>T ENSP00000512828.1:n.646+1G>T