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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:
CA380059295
Gene: FANCF
HGNC
NCBI
Linked Data
dbSNP Id:
rs2133798128
MyVariant Identifiers:
chr11:g.22647046C>T (hg19)
chr11:g.22625500C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.22625500C>T , CM000673.2:g.22625500C>T
GRCh38
NC_000011.9:g.22647046C>T , CM000673.1:g.22647046C>T
GRCh37
NC_000011.8:g.22603622C>T
NCBI36
NG_007425.1:g.5342G>A , LRG_527:g.5342G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000327470.6:c.311G>A
MANE Select
ENSP00000330875.3:p.Gly104Glu
ENST00000327470.4:c.311G>A
ENSP00000330875.3:p.Gly104Glu
NM_022725.3:c.311G>A , LRG_527t1:c.311G>A
NP_073562.1:p.Gly104Glu
NM_022725.4:c.311G>A
MANE Select
NP_073562.1:p.Gly104Glu
Search 100 bp 5'
Search 100 bp 3'