Canonical Allele Identifier: CA2694722538
Gene: FRMD7 HGNC NCBI

Linked Data

gnomAD v4: X-132127954-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127954C>A , CM000685.2:g.132127954C>A GRCh38
NC_000023.10:g.131261982C>A , CM000685.1:g.131261982C>A GRCh37
NC_000023.9:g.131089663C>A NCBI36
NG_012347.1:g.5069G>T , LRG_867:g.5069G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.-110G>T MANE Select ENSP00000298542.3:n.-110G>T
ENST00000298542.8:c.-110G>T ENSP00000298542.3:n.-110G>T
NM_001306193.1:c.-110G>T NP_001293122.1:n.-110G>T
NM_194277.2:c.-110G>T , LRG_867t1:c.-110G>T NP_919253.1:n.-110G>T
NM_001306193.2:c.-110G>T NP_001293122.1:n.-110G>T
NM_194277.3:c.-110G>T MANE Select NP_919253.1:n.-110G>T
Search 100 bp 5'
Search 100 bp 3'