Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA662078721

Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs1483331617

gnomAD v3: 10-14436397-A-G

gnomAD v4: 10-14436397-A-G

MyVariant Identifiers: chr10:g.14478396A>G (hg19) chr10:g.14436397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436397A>G , CM000672.2:g.14436397A>G	GRCh38
NC_000010.10:g.14478396A>G , CM000672.1:g.14478396A>G	GRCh37
NC_000010.9:g.14518402A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25671T>C	ENSP00000473870.1:n.-305+25671T>C
ENST00000493380.5:c.-82+25671T>C	ENSP00000474863.1:n.-82+25671T>C

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