Canonical Allele Identifier: CA380058540
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625127T>G , CM000673.2:g.22625127T>G GRCh38
NC_000011.9:g.22646673T>G , CM000673.1:g.22646673T>G GRCh37
NC_000011.8:g.22603249T>G NCBI36
NG_007425.1:g.5715A>C , LRG_527:g.5715A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.684A>C MANE Select ENSP00000330875.3:p.Lys228Asn
ENST00000327470.4:c.684A>C ENSP00000330875.3:p.Lys228Asn
NM_022725.3:c.684A>C , LRG_527t1:c.684A>C NP_073562.1:p.Lys228Asn
NM_022725.4:c.684A>C MANE Select NP_073562.1:p.Lys228Asn