Canonical Allele Identifier: CA614200900
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1351834157
gnomAD v2: 14-52077039-T-A
gnomAD v3: 14-51610321-T-A
gnomAD v4: 14-51610321-T-A
MyVariant Identifiers: chr14:g.52077039T>A (hg19) chr14:g.51610321T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610321T>A , CM000676.2:g.51610321T>A GRCh38
NC_000014.8:g.52077039T>A , CM000676.1:g.52077039T>A GRCh37
NC_000014.7:g.51146789T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356218.8:c.-147+39911T>A ENSP00000348550.4:n.-147+39911T>A
ENST00000554745.1:n.278-33131T>A
ENST00000556137.5:n.508+39911T>A
NM_001042481.2:c.-147+39911T>A NP_001035946.1:n.-147+39911T>A
XM_011536423.1:c.-147+39911T>A XP_011534725.1:n.-147+39911T>A
XM_011536424.1:c.-147+39911T>A XP_011534726.1:n.-147+39911T>A
XM_024449472.1:c.-147+39911T>A XP_024305240.1:n.-147+39911T>A
XM_024449473.1:c.-146-79370T>A XP_024305241.1:n.-146-79370T>A
NM_001042481.3:c.-147+39911T>A NP_001035946.1:n.-147+39911T>A
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