Canonical Allele Identifier: CA380059152
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2739326
ClinVar RCV Id: RCV003523492
MyVariant Identifiers: chr11:g.22646972G>T (hg19) chr11:g.22625426G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625426G>T , CM000673.2:g.22625426G>T GRCh38
NC_000011.9:g.22646972G>T , CM000673.1:g.22646972G>T GRCh37
NC_000011.8:g.22603548G>T NCBI36
NG_007425.1:g.5416C>A , LRG_527:g.5416C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.385C>A MANE Select ENSP00000330875.3:p.Leu129Ile
ENST00000327470.4:c.385C>A ENSP00000330875.3:p.Leu129Ile
NM_022725.3:c.385C>A , LRG_527t1:c.385C>A NP_073562.1:p.Leu129Ile
NM_022725.4:c.385C>A MANE Select NP_073562.1:p.Leu129Ile
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