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: CA1111331309

Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1809944432

gnomAD v3: 8-16992794-T-C

gnomAD v4: 8-16992794-T-C

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.16992794T>C , CM000670.2:g.16992794T>C	GRCh38
NC_000008.10:g.16850303T>C , CM000670.1:g.16850303T>C	GRCh37
NC_000008.9:g.16894674T>C	NCBI36
NG_015978.1:g.14372A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000180166.6:c.*278A>G MANE Select	ENSP00000180166.5:n.*278A>G
ENST00000180166.5:c.*278A>G	ENSP00000180166.5:n.*278A>G
NM_019851.3:c.*278A>G MANE Select	NP_062825.1:n.*278A>G

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