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: CA203745887

Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs866127440

gnomAD v3: 10-14436492-A-G

gnomAD v4: 10-14436492-A-G

MyVariant Identifiers: chr10:g.14478491A>G (hg19) chr10:g.14436492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436492A>G , CM000672.2:g.14436492A>G	GRCh38
NC_000010.10:g.14478491A>G , CM000672.1:g.14478491A>G	GRCh37
NC_000010.9:g.14518497A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25576T>C	ENSP00000473870.1:n.-305+25576T>C
ENST00000493380.5:c.-82+25576T>C	ENSP00000474863.1:n.-82+25576T>C

Search 100 bp 5'

Search 100 bp 3'