Canonical Allele Identifier: CA5924312
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 456283
ClinVar RCV Id: RCV000547221
dbSNP Id: rs774728053
ExAC: 11:22646810 C / T
gnomAD v2: 11-22646810-C-T
gnomAD v4: 11-22625264-C-T
MyVariant Identifiers: chr11:g.22646810C>T (hg19) chr11:g.22625264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625264C>T , CM000673.2:g.22625264C>T GRCh38
NC_000011.9:g.22646810C>T , CM000673.1:g.22646810C>T GRCh37
NC_000011.8:g.22603386C>T NCBI36
NG_007425.1:g.5578G>A , LRG_527:g.5578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.547G>A MANE Select ENSP00000330875.3:p.Glu183Lys
ENST00000327470.4:c.547G>A ENSP00000330875.3:p.Glu183Lys
NM_022725.3:c.547G>A , LRG_527t1:c.547G>A NP_073562.1:p.Glu183Lys
NM_022725.4:c.547G>A MANE Select NP_073562.1:p.Glu183Lys
Search 100 bp 5'
Search 100 bp 3'