Canonical Allele Identifier: CA380058624
Gene: FANCF HGNC NCBI

Linked Data

gnomAD v4: 11-22625169-C-A
MyVariant Identifiers: chr11:g.22646715C>A (hg19) chr11:g.22625169C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625169C>A , CM000673.2:g.22625169C>A GRCh38
NC_000011.9:g.22646715C>A , CM000673.1:g.22646715C>A GRCh37
NC_000011.8:g.22603291C>A NCBI36
NG_007425.1:g.5673G>T , LRG_527:g.5673G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.642G>T MANE Select ENSP00000330875.3:p.Leu214Phe
ENST00000327470.4:c.642G>T ENSP00000330875.3:p.Leu214Phe
NM_022725.3:c.642G>T , LRG_527t1:c.642G>T NP_073562.1:p.Leu214Phe
NM_022725.4:c.642G>T MANE Select NP_073562.1:p.Leu214Phe
Search 100 bp 5'
Search 100 bp 3'