Canonical Allele Identifier: CA614200922

Gene: FRMD6

Linked Data

• dbSNP Id: rs1177543206
• gnomAD v2: 14-52077123-G-T
• gnomAD v3: 14-51610405-G-T
• gnomAD v4: 14-51610405-G-T
• MyVariant Identifiers: chr14:g.52077123G>T (hg19) ; chr14:g.51610405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610405G>T , CM000676.2:g.51610405G>T	GRCh38
NC_000014.8:g.52077123G>T , CM000676.1:g.52077123G>T	GRCh37
NC_000014.7:g.51146873G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+39995G>T	ENSP00000348550.4:n.-147+39995G>T
ENST00000554745.1:n.278-33047G>T
ENST00000556137.5:n.508+39995G>T
NM_001042481.2:c.-147+39995G>T	NP_001035946.1:n.-147+39995G>T
XM_011536423.1:c.-147+39995G>T	XP_011534725.1:n.-147+39995G>T
XM_011536424.1:c.-147+39995G>T	XP_011534726.1:n.-147+39995G>T
XM_024449472.1:c.-147+39995G>T	XP_024305240.1:n.-147+39995G>T
XM_024449473.1:c.-146-79286G>T	XP_024305241.1:n.-146-79286G>T
NM_001042481.3:c.-147+39995G>T	NP_001035946.1:n.-147+39995G>T