Canonical Allele Identifier: CA380059192
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1590541807
gnomAD v4: 11-22625443-T-G
MyVariant Identifiers: chr11:g.22646989T>G (hg19) chr11:g.22625443T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625443T>G , CM000673.2:g.22625443T>G GRCh38
NC_000011.9:g.22646989T>G , CM000673.1:g.22646989T>G GRCh37
NC_000011.8:g.22603565T>G NCBI36
NG_007425.1:g.5399A>C , LRG_527:g.5399A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.368A>C MANE Select ENSP00000330875.3:p.Asp123Ala
ENST00000327470.4:c.368A>C ENSP00000330875.3:p.Asp123Ala
NM_022725.3:c.368A>C , LRG_527t1:c.368A>C NP_073562.1:p.Asp123Ala
NM_022725.4:c.368A>C MANE Select NP_073562.1:p.Asp123Ala
Search 100 bp 5'
Search 100 bp 3'