Canonical Allele Identifier: CA380059340

Linked Data

dbSNP Id: rs764924585

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625524C>T , CM000673.2:g.22625524C>T GRCh38
NC_000011.9:g.22647070C>T , CM000673.1:g.22647070C>T GRCh37
NC_000011.8:g.22603646C>T NCBI36
NG_007425.1:g.5318G>A , LRG_527:g.5318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.287G>A (FANCF) MANE Select ENSP00000330875.3:p.Arg96His
ENST00000648096.1:n.16C>T (GAS2)
ENST00000327470.4:c.287G>A (FANCF) ENSP00000330875.3:p.Arg96His
NM_022725.3:c.287G>A , LRG_527t1:c.287G>A (FANCF) NP_073562.1:p.Arg96His
NM_022725.4:c.287G>A (FANCF) MANE Select NP_073562.1:p.Arg96His