Canonical Allele Identifier: CA5415002

Gene: FRMD4A

Linked Data

• dbSNP Id: rs369629601
• ExAC: 10:14478569 C / T
• gnomAD v2: 10-14478569-C-T
• gnomAD v3: 10-14436570-C-T
• gnomAD v4: 10-14436570-C-T
• MyVariant Identifiers: chr10:g.14478569C>T (hg19) ; chr10:g.14436570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436570C>T , CM000672.2:g.14436570C>T	GRCh38
NC_000010.10:g.14478569C>T , CM000672.1:g.14478569C>T	GRCh37
NC_000010.9:g.14518575C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000475141.2:c.-305+25498G>A	ENSP00000473870.1:n.-305+25498G>A
ENST00000493380.5:c.-82+25498G>A	ENSP00000474863.1:n.-82+25498G>A