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: CA592244554

Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs1272165929

gnomAD v2: 10-14478451-A-G

gnomAD v4: 10-14436452-A-G

MyVariant Identifiers: chr10:g.14478451A>G (hg19) chr10:g.14436452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436452A>G , CM000672.2:g.14436452A>G	GRCh38
NC_000010.10:g.14478451A>G , CM000672.1:g.14478451A>G	GRCh37
NC_000010.9:g.14518457A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25616T>C	ENSP00000473870.1:n.-305+25616T>C
ENST00000493380.5:c.-82+25616T>C	ENSP00000474863.1:n.-82+25616T>C

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