Canonical Allele Identifier: CA380059189
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1590541802
MyVariant Identifiers: chr11:g.22646988G>C (hg19) chr11:g.22625442G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625442G>C , CM000673.2:g.22625442G>C GRCh38
NC_000011.9:g.22646988G>C , CM000673.1:g.22646988G>C GRCh37
NC_000011.8:g.22603564G>C NCBI36
NG_007425.1:g.5400C>G , LRG_527:g.5400C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.369C>G MANE Select ENSP00000330875.3:p.Asp123Glu
ENST00000327470.4:c.369C>G ENSP00000330875.3:p.Asp123Glu
NM_022725.3:c.369C>G , LRG_527t1:c.369C>G NP_073562.1:p.Asp123Glu
NM_022725.4:c.369C>G MANE Select NP_073562.1:p.Asp123Glu
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