Canonical Allele Identifier: CA2694722534
Gene: FRMD7 HGNC NCBI

Linked Data

gnomAD v4: X-132127949-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127949C>A , CM000685.2:g.132127949C>A GRCh38
NC_000023.10:g.131261977C>A , CM000685.1:g.131261977C>A GRCh37
NC_000023.9:g.131089658C>A NCBI36
NG_012347.1:g.5074G>T , LRG_867:g.5074G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.-105G>T MANE Select ENSP00000298542.3:n.-105G>T
ENST00000298542.8:c.-105G>T ENSP00000298542.3:n.-105G>T
NM_001306193.1:c.-105G>T NP_001293122.1:n.-105G>T
NM_194277.2:c.-105G>T , LRG_867t1:c.-105G>T NP_919253.1:n.-105G>T
NM_001306193.2:c.-105G>T NP_001293122.1:n.-105G>T
NM_194277.3:c.-105G>T MANE Select NP_919253.1:n.-105G>T
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