Canonical Allele Identifier: CA1892118115
Gene: FRMD4A HGNC NCBI

Linked Data

dbSNP Id: rs1844558516
gnomAD v4: 10-14436522-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14436522G>T , CM000672.2:g.14436522G>T GRCh38
NC_000010.10:g.14478521G>T , CM000672.1:g.14478521G>T GRCh37
NC_000010.9:g.14518527G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000475141.2:c.-305+25546C>A ENSP00000473870.1:n.-305+25546C>A
ENST00000493380.5:c.-82+25546C>A ENSP00000474863.1:n.-82+25546C>A
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