Canonical Allele Identifier: CA380058877
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs2133797555
MyVariant Identifiers: chr11:g.22646836A>G (hg19) chr11:g.22625290A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625290A>G , CM000673.2:g.22625290A>G GRCh38
NC_000011.9:g.22646836A>G , CM000673.1:g.22646836A>G GRCh37
NC_000011.8:g.22603412A>G NCBI36
NG_007425.1:g.5552T>C , LRG_527:g.5552T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.521T>C MANE Select ENSP00000330875.3:p.Leu174Pro
ENST00000327470.4:c.521T>C ENSP00000330875.3:p.Leu174Pro
NM_022725.3:c.521T>C , LRG_527t1:c.521T>C NP_073562.1:p.Leu174Pro
NM_022725.4:c.521T>C MANE Select NP_073562.1:p.Leu174Pro
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