Canonical Allele Identifier: CA5039769
Community Standard Title: NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075557G>C , CM000671.2:g.35075557G>C GRCh38
NC_000009.11:g.35075554G>C , CM000671.1:g.35075554G>C GRCh37
NC_000009.10:g.35065554G>C NCBI36
NG_007312.1:g.9460C>G , LRG_499:g.9460C>G
NG_007887.1:g.2186C>G , LRG_657:g.2186C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1341C>G MANE Select NP_004620.1:p.Tyr447Ter
ENST00000378643.8:c.1341C>G MANE Select ENSP00000367910.4:p.Tyr447Ter
NM_004629.1:c.1341C>G , LRG_499t1:c.1341C>G NP_004620.1:p.Tyr447Ter
ENST00000378643.7:c.1341C>G ENSP00000367910.3:p.Tyr447Ter
ENST00000425676.5:c.*817C>G ENSP00000412793.1:n.*817C>G
ENST00000448890.2:c.1341C>G ENSP00000409607.2:p.Tyr447Ter
ENST00000461149.2:n.2533C>G
ENST00000476212.1:n.44+965C>G
ENST00000696700.1:n.2568C>G
ENST00000696701.1:n.1445C>G
ENST00000696702.1:c.*792C>G ENSP00000512821.1:n.*792C>G
ENST00000696703.1:c.*725C>G ENSP00000512822.1:n.*725C>G
ENST00000696706.1:n.1404C>G
ENST00000696707.1:n.1558C>G
ENST00000696708.1:c.*686C>G ENSP00000512825.1:n.*686C>G
ENST00000696709.1:n.1932C>G
ENST00000696710.1:c.1341C>G ENSP00000512826.1:p.Tyr447Ter
ENST00000696711.1:n.3400C>G
ENST00000696712.1:n.1432C>G
ENST00000696713.1:c.1341C>G ENSP00000512827.1:p.Tyr447Ter
ENST00000696714.1:n.1725C>G
ENST00000696715.1:c.1341C>G ENSP00000512828.1:p.Tyr447Ter