Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA253847

Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 6344

ClinVar RCV Id: RCV000006716

dbSNP Id: rs104894222

MyVariant Identifiers: chr11:g.22647030G>C (hg19) chr11:g.22625484G>C (hg38)

PubMed: PMID:10615118

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625484G>C , CM000673.2:g.22625484G>C	GRCh38
NC_000011.9:g.22647030G>C , CM000673.1:g.22647030G>C	GRCh37
NC_000011.8:g.22603606G>C	NCBI36
NG_007425.1:g.5358C>G , LRG_527:g.5358C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327470.6:c.327C>G MANE Select	ENSP00000330875.3:p.Tyr109Ter
ENST00000327470.4:c.327C>G	ENSP00000330875.3:p.Tyr109Ter
NM_022725.3:c.327C>G , LRG_527t1:c.327C>G	NP_073562.1:p.Tyr109Ter
NM_022725.4:c.327C>G MANE Select	NP_073562.1:p.Tyr109Ter

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