Canonical Allele Identifier: CA380058636
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1473305
ClinVar RCV Id: RCV001977496
dbSNP Id: rs1590541259
gnomAD v4: 11-22625176-G-T
MyVariant Identifiers: chr11:g.22646722G>T (hg19) chr11:g.22625176G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625176G>T , CM000673.2:g.22625176G>T GRCh38
NC_000011.9:g.22646722G>T , CM000673.1:g.22646722G>T GRCh37
NC_000011.8:g.22603298G>T NCBI36
NG_007425.1:g.5666C>A , LRG_527:g.5666C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.635C>A MANE Select ENSP00000330875.3:p.Pro212Gln
ENST00000327470.4:c.635C>A ENSP00000330875.3:p.Pro212Gln
NM_022725.3:c.635C>A , LRG_527t1:c.635C>A NP_073562.1:p.Pro212Gln
NM_022725.4:c.635C>A MANE Select NP_073562.1:p.Pro212Gln
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