Canonical Allele Identifier: CA380058171
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1177443868
gnomAD v2: 11-22646491-A-T
gnomAD v4: 11-22624945-A-T
MyVariant Identifiers: chr11:g.22646491A>T (hg19) chr11:g.22624945A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624945A>T , CM000673.2:g.22624945A>T GRCh38
NC_000011.9:g.22646491A>T , CM000673.1:g.22646491A>T GRCh37
NC_000011.8:g.22603067A>T NCBI36
NG_007425.1:g.5897T>A , LRG_527:g.5897T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.866T>A MANE Select ENSP00000330875.3:p.Leu289His
ENST00000327470.4:c.866T>A ENSP00000330875.3:p.Leu289His
NM_022725.3:c.866T>A , LRG_527t1:c.866T>A NP_073562.1:p.Leu289His
NM_022725.4:c.866T>A MANE Select NP_073562.1:p.Leu289His
Search 100 bp 5'
Search 100 bp 3'