Canonical Allele Identifier: CA380058232
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2132323
ClinVar RCV Id: RCV003036677
dbSNP Id: rs1858619295
MyVariant Identifiers: chr11:g.22646519C>A (hg19) chr11:g.22624973C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624973C>A , CM000673.2:g.22624973C>A GRCh38
NC_000011.9:g.22646519C>A , CM000673.1:g.22646519C>A GRCh37
NC_000011.8:g.22603095C>A NCBI36
NG_007425.1:g.5869G>T , LRG_527:g.5869G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.838G>T MANE Select ENSP00000330875.3:p.Asp280Tyr
ENST00000327470.4:c.838G>T ENSP00000330875.3:p.Asp280Tyr
NM_022725.3:c.838G>T , LRG_527t1:c.838G>T NP_073562.1:p.Asp280Tyr
NM_022725.4:c.838G>T MANE Select NP_073562.1:p.Asp280Tyr
Search 100 bp 5'
Search 100 bp 3'