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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA473533737
Gene: FANCF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2201202
ClinVar RCV Id:
RCV002644330
dbSNP Id:
rs2133798135
gnomAD v4:
11-22625502-G-A
COSMIC:
COSM6450759
MyVariant Identifiers:
chr11:g.22647048G>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.22625502G>A , CM000673.2:g.22625502G>A
GRCh38
NC_000011.9:g.22647048G>A , CM000673.1:g.22647048G>A
GRCh37
NC_000011.8:g.22603624G>A
NCBI36
NG_007425.1:g.5340C>T , LRG_527:g.5340C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000327470.6:c.309C>T
MANE Select
ENSP00000330875.3:p.Leu103=
ENST00000327470.4:c.309C>T
ENSP00000330875.3:p.Leu103=
NM_022725.3:c.309C>T , LRG_527t1:c.309C>T
NP_073562.1:p.Leu103=
NM_022725.4:c.309C>T
MANE Select
NP_073562.1:p.Leu103=
Search 100 bp 5'
Search 100 bp 3'