Canonical Allele Identifier: CA473533763
Gene: FANCF HGNC NCBI
GAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188826
ClinVar RCV Id: RCV002620523
dbSNP Id: rs1418187939
gnomAD v2: 11-22647066-C-T
gnomAD v4: 11-22625520-C-T
MyVariant Identifiers: chr11:g.22647066C>T (hg19) chr11:g.22625520C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625520C>T , CM000673.2:g.22625520C>T GRCh38
NC_000011.9:g.22647066C>T , CM000673.1:g.22647066C>T GRCh37
NC_000011.8:g.22603642C>T NCBI36
NG_007425.1:g.5322G>A , LRG_527:g.5322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.291G>A (FANCF) MANE Select ENSP00000330875.3:p.Leu97=
ENST00000648096.1:n.12C>T (GAS2)
ENST00000327470.4:c.291G>A (FANCF) ENSP00000330875.3:p.Leu97=
NM_022725.3:c.291G>A , LRG_527t1:c.291G>A (FANCF) NP_073562.1:p.Leu97=
NM_022725.4:c.291G>A (FANCF) MANE Select NP_073562.1:p.Leu97=
Search 100 bp 5'
Search 100 bp 3'