Canonical Allele Identifier: CA5414993

Gene: FRMD4A

Linked Data

• dbSNP Id: rs566655753
• ExAC: 10:14478530 A / G
• gnomAD v2: 10-14478530-A-G
• gnomAD v3: 10-14436531-A-G
• gnomAD v4: 10-14436531-A-G
• MyVariant Identifiers: chr10:g.14478530A>G (hg19) ; chr10:g.14436531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436531A>G , CM000672.2:g.14436531A>G	GRCh38
NC_000010.10:g.14478530A>G , CM000672.1:g.14478530A>G	GRCh37
NC_000010.9:g.14518536A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25537T>C	ENSP00000473870.1:n.-305+25537T>C
ENST00000493380.5:c.-82+25537T>C	ENSP00000474863.1:n.-82+25537T>C