Canonical Allele Identifier: CA5924317
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs764066836
ExAC: 11:22646839 C / G
gnomAD v2: 11-22646839-C-G
gnomAD v4: 11-22625293-C-G
MyVariant Identifiers: chr11:g.22646839C>G (hg19) chr11:g.22625293C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625293C>G , CM000673.2:g.22625293C>G GRCh38
NC_000011.9:g.22646839C>G , CM000673.1:g.22646839C>G GRCh37
NC_000011.8:g.22603415C>G NCBI36
NG_007425.1:g.5549G>C , LRG_527:g.5549G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.518G>C MANE Select ENSP00000330875.3:p.Arg173Pro
ENST00000327470.4:c.518G>C ENSP00000330875.3:p.Arg173Pro
NM_022725.3:c.518G>C , LRG_527t1:c.518G>C NP_073562.1:p.Arg173Pro
NM_022725.4:c.518G>C MANE Select NP_073562.1:p.Arg173Pro
Search 100 bp 5'
Search 100 bp 3'