Canonical Allele Identifier: CA261327517

Gene: FRMD6

Linked Data

• dbSNP Id: rs530642735
• gnomAD v3: 14-51610192-C-A
• gnomAD v4: 14-51610192-C-A
• MyVariant Identifiers: chr14:g.52076910C>A (hg19) ; chr14:g.51610192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610192C>A , CM000676.2:g.51610192C>A	GRCh38
NC_000014.8:g.52076910C>A , CM000676.1:g.52076910C>A	GRCh37
NC_000014.7:g.51146660C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39782C>A	ENSP00000348550.4:n.-147+39782C>A
ENST00000554745.1:n.278-33260C>A
ENST00000556137.5:n.508+39782C>A
NM_001042481.2:c.-147+39782C>A	NP_001035946.1:n.-147+39782C>A
XM_011536423.1:c.-147+39782C>A	XP_011534725.1:n.-147+39782C>A
XM_011536424.1:c.-147+39782C>A	XP_011534726.1:n.-147+39782C>A
XM_024449472.1:c.-147+39782C>A	XP_024305240.1:n.-147+39782C>A
XM_024449473.1:c.-146-79499C>A	XP_024305241.1:n.-146-79499C>A
NM_001042481.3:c.-147+39782C>A	NP_001035946.1:n.-147+39782C>A