Canonical Allele Identifier: CA5924321
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs751518324
ExAC: 11:22646871 C / A
gnomAD v2: 11-22646871-C-A
gnomAD v4: 11-22625325-C-A
MyVariant Identifiers: chr11:g.22646871C>A (hg19) chr11:g.22646871_22646873delinsAAG (hg19) chr11:g.22625325C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625325C>A , CM000673.2:g.22625325C>A GRCh38
NC_000011.9:g.22646871C>A , CM000673.1:g.22646871C>A GRCh37
NC_000011.8:g.22603447C>A NCBI36
NG_007425.1:g.5517G>T , LRG_527:g.5517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.486G>T MANE Select ENSP00000330875.3:p.Leu162=
ENST00000327470.4:c.486G>T ENSP00000330875.3:p.Leu162=
NM_022725.3:c.486G>T , LRG_527t1:c.486G>T NP_073562.1:p.Leu162=
NM_022725.4:c.486G>T MANE Select NP_073562.1:p.Leu162=
Search 100 bp 5'
Search 100 bp 3'