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: CA662078885

Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs774002376

gnomAD v3: 10-14436553-T-C

gnomAD v4: 10-14436553-T-C

MyVariant Identifiers: chr10:g.14478552T>C (hg19) chr10:g.14436553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436553T>C , CM000672.2:g.14436553T>C	GRCh38
NC_000010.10:g.14478552T>C , CM000672.1:g.14478552T>C	GRCh37
NC_000010.9:g.14518558T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25515A>G	ENSP00000473870.1:n.-305+25515A>G
ENST00000493380.5:c.-82+25515A>G	ENSP00000474863.1:n.-82+25515A>G

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