Canonical Allele Identifier: CA5924258
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1319635
ClinVar RCV Id: RCV001861121 RCV003237628
dbSNP Id: rs762356967
ExAC: 11:22646556 G / T
gnomAD v2: 11-22646556-G-T
gnomAD v3: 11-22625010-G-T
gnomAD v4: 11-22625010-G-T
MyVariant Identifiers: chr11:g.22646556G>T (hg19) chr11:g.22625010G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625010G>T , CM000673.2:g.22625010G>T GRCh38
NC_000011.9:g.22646556G>T , CM000673.1:g.22646556G>T GRCh37
NC_000011.8:g.22603132G>T NCBI36
NG_007425.1:g.5832C>A , LRG_527:g.5832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.801C>A MANE Select ENSP00000330875.3:p.His267Gln
ENST00000327470.4:c.801C>A ENSP00000330875.3:p.His267Gln
NM_022725.3:c.801C>A , LRG_527t1:c.801C>A NP_073562.1:p.His267Gln
NM_022725.4:c.801C>A MANE Select NP_073562.1:p.His267Gln
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