Canonical Allele Identifier: CA380059336

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625521A>T , CM000673.2:g.22625521A>T GRCh38
NC_000011.9:g.22647067A>T , CM000673.1:g.22647067A>T GRCh37
NC_000011.8:g.22603643A>T NCBI36
NG_007425.1:g.5321T>A , LRG_527:g.5321T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.290T>A (FANCF) MANE Select ENSP00000330875.3:p.Leu97Gln
ENST00000648096.1:n.13A>T (GAS2)
ENST00000327470.4:c.290T>A (FANCF) ENSP00000330875.3:p.Leu97Gln
NM_022725.3:c.290T>A , LRG_527t1:c.290T>A (FANCF) NP_073562.1:p.Leu97Gln
NM_022725.4:c.290T>A (FANCF) MANE Select NP_073562.1:p.Leu97Gln