Canonical Allele Identifier: CA1137412638
Gene: FRMD7 HGNC NCBI

Linked Data

dbSNP Id: rs1929196698
gnomAD v3: X-132127940-C-T
gnomAD v4: X-132127940-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127940C>T , CM000685.2:g.132127940C>T GRCh38
NC_000023.10:g.131261968C>T , CM000685.1:g.131261968C>T GRCh37
NC_000023.9:g.131089649C>T NCBI36
NG_012347.1:g.5083G>A , LRG_867:g.5083G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298542.9:c.-96G>A MANE Select ENSP00000298542.3:n.-96G>A
ENST00000298542.8:c.-96G>A ENSP00000298542.3:n.-96G>A
NM_001306193.1:c.-96G>A NP_001293122.1:n.-96G>A
NM_194277.2:c.-96G>A , LRG_867t1:c.-96G>A NP_919253.1:n.-96G>A
NM_001306193.2:c.-96G>A NP_001293122.1:n.-96G>A
NM_194277.3:c.-96G>A MANE Select NP_919253.1:n.-96G>A
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