Canonical Allele Identifier: CA614200735

Gene: FRMD6

Linked Data

• dbSNP Id: rs985750449
• gnomAD v2: 14-52076940-G-C
• MyVariant Identifiers: chr14:g.52076940G>C (hg19) ; chr14:g.51610222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610222G>C , CM000676.2:g.51610222G>C	GRCh38
NC_000014.8:g.52076940G>C , CM000676.1:g.52076940G>C	GRCh37
NC_000014.7:g.51146690G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39812G>C	ENSP00000348550.4:n.-147+39812G>C
ENST00000554745.1:n.278-33230G>C
ENST00000556137.5:n.508+39812G>C
NM_001042481.2:c.-147+39812G>C	NP_001035946.1:n.-147+39812G>C
XM_011536423.1:c.-147+39812G>C	XP_011534725.1:n.-147+39812G>C
XM_011536424.1:c.-147+39812G>C	XP_011534726.1:n.-147+39812G>C
XM_024449472.1:c.-147+39812G>C	XP_024305240.1:n.-147+39812G>C
XM_024449473.1:c.-146-79469G>C	XP_024305241.1:n.-146-79469G>C
NM_001042481.3:c.-147+39812G>C	NP_001035946.1:n.-147+39812G>C