Canonical Allele Identifier: CA706689057

Gene: FRMD6

Linked Data

• dbSNP Id: rs1265180347
• gnomAD v3: 14-51610193-G-A
• gnomAD v4: 14-51610193-G-A
• MyVariant Identifiers: chr14:g.52076911G>A (hg19) ; chr14:g.51610193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610193G>A , CM000676.2:g.51610193G>A	GRCh38
NC_000014.8:g.52076911G>A , CM000676.1:g.52076911G>A	GRCh37
NC_000014.7:g.51146661G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+39783G>A	ENSP00000348550.4:n.-147+39783G>A
ENST00000554745.1:n.278-33259G>A
ENST00000556137.5:n.508+39783G>A
NM_001042481.2:c.-147+39783G>A	NP_001035946.1:n.-147+39783G>A
XM_011536423.1:c.-147+39783G>A	XP_011534725.1:n.-147+39783G>A
XM_011536424.1:c.-147+39783G>A	XP_011534726.1:n.-147+39783G>A
XM_024449472.1:c.-147+39783G>A	XP_024305240.1:n.-147+39783G>A
XM_024449473.1:c.-146-79498G>A	XP_024305241.1:n.-146-79498G>A
NM_001042481.3:c.-147+39783G>A	NP_001035946.1:n.-147+39783G>A