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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:
CA380058894
Gene: FANCF
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr11:g.22646845A>T (hg19)
chr11:g.22625299A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.22625299A>T , CM000673.2:g.22625299A>T
GRCh38
NC_000011.9:g.22646845A>T , CM000673.1:g.22646845A>T
GRCh37
NC_000011.8:g.22603421A>T
NCBI36
NG_007425.1:g.5543T>A , LRG_527:g.5543T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327470.6:c.512T>A
MANE Select
ENSP00000330875.3:p.Leu171Gln
ENST00000327470.4:c.512T>A
ENSP00000330875.3:p.Leu171Gln
NM_022725.3:c.512T>A , LRG_527t1:c.512T>A
NP_073562.1:p.Leu171Gln
NM_022725.4:c.512T>A
MANE Select
NP_073562.1:p.Leu171Gln
Search 100 bp 5'
Search 100 bp 3'