Canonical Allele Identifier: CA5924256
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1336039
ClinVar RCV Id: RCV001822221 RCV002542497
dbSNP Id: rs754312601
ExAC: 11:22646550 C / T
gnomAD v2: 11-22646550-C-T
gnomAD v3: 11-22625004-C-T
gnomAD v4: 11-22625004-C-T
COSMIC: COSM266514
MyVariant Identifiers: chr11:g.22646550C>T (hg19) chr11:g.22625004C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625004C>T , CM000673.2:g.22625004C>T GRCh38
NC_000011.9:g.22646550C>T , CM000673.1:g.22646550C>T GRCh37
NC_000011.8:g.22603126C>T NCBI36
NG_007425.1:g.5838G>A , LRG_527:g.5838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.807G>A MANE Select ENSP00000330875.3:p.Ala269=
ENST00000327470.4:c.807G>A ENSP00000330875.3:p.Ala269=
NM_022725.3:c.807G>A , LRG_527t1:c.807G>A NP_073562.1:p.Ala269=
NM_022725.4:c.807G>A MANE Select NP_073562.1:p.Ala269=
Search 100 bp 5'
Search 100 bp 3'