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: CA2686252338

Gene: FGF20 HGNC NCBI

Linked Data

gnomAD v4: 8-16992824-A-G

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.16992824A>G , CM000670.2:g.16992824A>G	GRCh38
NC_000008.10:g.16850333A>G , CM000670.1:g.16850333A>G	GRCh37
NC_000008.9:g.16894704A>G	NCBI36
NG_015978.1:g.14342T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000180166.6:c.*248T>C MANE Select	ENSP00000180166.5:n.*248T>C
ENST00000180166.5:c.*248T>C	ENSP00000180166.5:n.*248T>C
NM_019851.3:c.*248T>C MANE Select	NP_062825.1:n.*248T>C

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