Canonical Allele Identifier: CA614200923
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1378069176
gnomAD v2: 14-52077129-C-A
gnomAD v3: 14-51610411-C-A
gnomAD v4: 14-51610411-C-A
MyVariant Identifiers: chr14:g.52077129C>A (hg19) chr14:g.51610411C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610411C>A , CM000676.2:g.51610411C>A GRCh38
NC_000014.8:g.52077129C>A , CM000676.1:g.52077129C>A GRCh37
NC_000014.7:g.51146879C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356218.8:c.-147+40001C>A ENSP00000348550.4:n.-147+40001C>A
ENST00000554745.1:n.278-33041C>A
ENST00000556137.5:n.508+40001C>A
NM_001042481.2:c.-147+40001C>A NP_001035946.1:n.-147+40001C>A
XM_011536423.1:c.-147+40001C>A XP_011534725.1:n.-147+40001C>A
XM_011536424.1:c.-147+40001C>A XP_011534726.1:n.-147+40001C>A
XM_024449472.1:c.-147+40001C>A XP_024305240.1:n.-147+40001C>A
XM_024449473.1:c.-146-79280C>A XP_024305241.1:n.-146-79280C>A
NM_001042481.3:c.-147+40001C>A NP_001035946.1:n.-147+40001C>A
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