Canonical Allele Identifier: CA261327554

Gene: FRMD6

Linked Data

• dbSNP Id: rs537580447
• gnomAD v2: 14-52077195-T-G
• gnomAD v3: 14-51610477-T-G
• gnomAD v4: 14-51610477-T-G
• MyVariant Identifiers: chr14:g.52077195T>G (hg19) ; chr14:g.51610477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610477T>G , CM000676.2:g.51610477T>G	GRCh38
NC_000014.8:g.52077195T>G , CM000676.1:g.52077195T>G	GRCh37
NC_000014.7:g.51146945T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+40067T>G	ENSP00000348550.4:n.-147+40067T>G
ENST00000554745.1:n.278-32975T>G
ENST00000556137.5:n.508+40067T>G
NM_001042481.2:c.-147+40067T>G	NP_001035946.1:n.-147+40067T>G
XM_011536423.1:c.-147+40067T>G	XP_011534725.1:n.-147+40067T>G
XM_011536424.1:c.-147+40067T>G	XP_011534726.1:n.-147+40067T>G
XM_024449472.1:c.-147+40067T>G	XP_024305240.1:n.-147+40067T>G
XM_024449473.1:c.-146-79214T>G	XP_024305241.1:n.-146-79214T>G
NM_001042481.3:c.-147+40067T>G	NP_001035946.1:n.-147+40067T>G