Canonical Allele Identifier: CA5924362
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2188325
ClinVar RCV Id: RCV002620143
dbSNP Id: rs149490050
ExAC: 11:22647006 G / A
gnomAD v2: 11-22647006-G-A
gnomAD v4: 11-22625460-G-A
MyVariant Identifiers: chr11:g.22647006G>A (hg19) chr11:g.22625460G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625460G>A , CM000673.2:g.22625460G>A GRCh38
NC_000011.9:g.22647006G>A , CM000673.1:g.22647006G>A GRCh37
NC_000011.8:g.22603582G>A NCBI36
NG_007425.1:g.5382C>T , LRG_527:g.5382C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.351C>T MANE Select ENSP00000330875.3:p.Pro117=
ENST00000327470.4:c.351C>T ENSP00000330875.3:p.Pro117=
NM_022725.3:c.351C>T , LRG_527t1:c.351C>T NP_073562.1:p.Pro117=
NM_022725.4:c.351C>T MANE Select NP_073562.1:p.Pro117=
Search 100 bp 5'
Search 100 bp 3'