Canonical Allele Identifier: CA473533535
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs2133796751
MyVariant Identifiers: chr11:g.22646549G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625003G>A , CM000673.2:g.22625003G>A GRCh38
NC_000011.9:g.22646549G>A , CM000673.1:g.22646549G>A GRCh37
NC_000011.8:g.22603125G>A NCBI36
NG_007425.1:g.5839C>T , LRG_527:g.5839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.808C>T MANE Select ENSP00000330875.3:p.Leu270=
ENST00000327470.4:c.808C>T ENSP00000330875.3:p.Leu270=
NM_022725.3:c.808C>T , LRG_527t1:c.808C>T NP_073562.1:p.Leu270=
NM_022725.4:c.808C>T MANE Select NP_073562.1:p.Leu270=