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: CA380059276

Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs773430381

gnomAD v4: 11-22625491-G-C

MyVariant Identifiers: chr11:g.22647037G>C (hg19) chr11:g.22625491G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625491G>C , CM000673.2:g.22625491G>C	GRCh38
NC_000011.9:g.22647037G>C , CM000673.1:g.22647037G>C	GRCh37
NC_000011.8:g.22603613G>C	NCBI36
NG_007425.1:g.5351C>G , LRG_527:g.5351C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327470.6:c.320C>G MANE Select	ENSP00000330875.3:p.Ala107Gly
ENST00000327470.4:c.320C>G	ENSP00000330875.3:p.Ala107Gly
NM_022725.3:c.320C>G , LRG_527t1:c.320C>G	NP_073562.1:p.Ala107Gly
NM_022725.4:c.320C>G MANE Select	NP_073562.1:p.Ala107Gly

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