Canonical Allele Identifier: CA5924278
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1011535
ClinVar RCV Id: RCV001309348
dbSNP Id: rs766802308
ExAC: 11:22646674 T / C
gnomAD v2: 11-22646674-T-C
gnomAD v4: 11-22625128-T-C
MyVariant Identifiers: chr11:g.22646674T>C (hg19) chr11:g.22625128T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625128T>C , CM000673.2:g.22625128T>C GRCh38
NC_000011.9:g.22646674T>C , CM000673.1:g.22646674T>C GRCh37
NC_000011.8:g.22603250T>C NCBI36
NG_007425.1:g.5714A>G , LRG_527:g.5714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.683A>G MANE Select ENSP00000330875.3:p.Lys228Arg
ENST00000327470.4:c.683A>G ENSP00000330875.3:p.Lys228Arg
NM_022725.3:c.683A>G , LRG_527t1:c.683A>G NP_073562.1:p.Lys228Arg
NM_022725.4:c.683A>G MANE Select NP_073562.1:p.Lys228Arg
Search 100 bp 5'
Search 100 bp 3'