Canonical Allele Identifier: CA464603042
Community Standard Title: NM_004629.2(FANCG):c.363G>C (p.Leu121=)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35078288C>G , CM000671.2:g.35078288C>G GRCh38
NC_000009.11:g.35078285C>G , CM000671.1:g.35078285C>G GRCh37
NC_000009.10:g.35068285C>G NCBI36
NG_007312.1:g.6729G>C , LRG_499:g.6729G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.363G>C MANE Select NP_004620.1:p.Leu121=
ENST00000378643.8:c.363G>C MANE Select ENSP00000367910.4:p.Leu121=
NM_004629.1:c.363G>C , LRG_499t1:c.363G>C NP_004620.1:p.Leu121=
ENST00000378643.7:c.363G>C ENSP00000367910.3:p.Leu121=
ENST00000425676.5:c.307+317G>C ENSP00000412793.1:n.307+317G>C
ENST00000448890.1:c.363G>C ENSP00000409607.1:p.Leu121=
ENST00000448890.2:c.363G>C ENSP00000409607.2:p.Leu121=
ENST00000461149.1:n.98G>C
ENST00000461149.2:n.839G>C
ENST00000696700.1:n.874G>C
ENST00000696701.1:n.523-211G>C
ENST00000696702.1:c.307+317G>C ENSP00000512821.1:n.307+317G>C
ENST00000696703.1:c.307+317G>C ENSP00000512822.1:n.307+317G>C
ENST00000696706.1:n.426G>C
ENST00000696707.1:n.580G>C
ENST00000696708.1:c.307+317G>C ENSP00000512825.1:n.307+317G>C
ENST00000696709.1:n.765G>C
ENST00000696710.1:c.363G>C ENSP00000512826.1:p.Leu121=
ENST00000696711.1:n.971G>C
ENST00000696713.1:c.363G>C ENSP00000512827.1:p.Leu121=
ENST00000696714.1:n.986+317G>C
ENST00000696715.1:c.363G>C ENSP00000512828.1:p.Leu121=