Canonical Allele Identifier: CA2694722539
Gene: FRMD7 HGNC NCBI

Linked Data

gnomAD v4: X-132127955-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132127955A>G , CM000685.2:g.132127955A>G GRCh38
NC_000023.10:g.131261983A>G , CM000685.1:g.131261983A>G GRCh37
NC_000023.9:g.131089664A>G NCBI36
NG_012347.1:g.5068T>C , LRG_867:g.5068T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.-111T>C MANE Select ENSP00000298542.3:n.-111T>C
ENST00000298542.8:c.-111T>C ENSP00000298542.3:n.-111T>C
NM_001306193.1:c.-111T>C NP_001293122.1:n.-111T>C
NM_194277.2:c.-111T>C , LRG_867t1:c.-111T>C NP_919253.1:n.-111T>C
NM_001306193.2:c.-111T>C NP_001293122.1:n.-111T>C
NM_194277.3:c.-111T>C MANE Select NP_919253.1:n.-111T>C
Search 100 bp 5'
Search 100 bp 3'