Canonical Allele Identifier: CA380058949
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625326A>C , CM000673.2:g.22625326A>C GRCh38
NC_000011.9:g.22646872A>C , CM000673.1:g.22646872A>C GRCh37
NC_000011.8:g.22603448A>C NCBI36
NG_007425.1:g.5516T>G , LRG_527:g.5516T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.485T>G MANE Select ENSP00000330875.3:p.Leu162Arg
ENST00000327470.4:c.485T>G ENSP00000330875.3:p.Leu162Arg
NM_022725.3:c.485T>G , LRG_527t1:c.485T>G NP_073562.1:p.Leu162Arg
NM_022725.4:c.485T>G MANE Select NP_073562.1:p.Leu162Arg