Canonical Allele Identifier: CA261327544
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs546525267
gnomAD v3: 14-51610404-G-C
gnomAD v4: 14-51610404-G-C
MyVariant Identifiers: chr14:g.52077122G>C (hg19) chr14:g.51610404G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610404G>C , CM000676.2:g.51610404G>C GRCh38
NC_000014.8:g.52077122G>C , CM000676.1:g.52077122G>C GRCh37
NC_000014.7:g.51146872G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356218.8:c.-147+39994G>C ENSP00000348550.4:n.-147+39994G>C
ENST00000554745.1:n.278-33048G>C
ENST00000556137.5:n.508+39994G>C
NM_001042481.2:c.-147+39994G>C NP_001035946.1:n.-147+39994G>C
XM_011536423.1:c.-147+39994G>C XP_011534725.1:n.-147+39994G>C
XM_011536424.1:c.-147+39994G>C XP_011534726.1:n.-147+39994G>C
XM_024449472.1:c.-147+39994G>C XP_024305240.1:n.-147+39994G>C
XM_024449473.1:c.-146-79287G>C XP_024305241.1:n.-146-79287G>C
NM_001042481.3:c.-147+39994G>C NP_001035946.1:n.-147+39994G>C
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