Canonical Allele Identifier: CA255545
Gene: FRMD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 10786
ClinVar RCV Id: RCV000011533 RCV001268897
dbSNP Id: rs137852210
gnomAD v4: X-132100704-C-T
MyVariant Identifiers: chrX:g.131234732C>T (hg19) chrX:g.132100704C>T (hg38)
PubMed: PMID:16020310 PMID:17013395 PMID:21303855
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132100704C>T , CM000685.2:g.132100704C>T GRCh38
NC_000023.10:g.131234732C>T , CM000685.1:g.131234732C>T GRCh37
NC_000023.9:g.131062413C>T NCBI36
NG_012347.1:g.32319G>A , LRG_867:g.32319G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000687717.1:n.328G>A
ENST00000298542.9:c.70G>A MANE Select ENSP00000298542.3:p.Gly24Arg
ENST00000298542.8:c.70G>A ENSP00000298542.3:p.Gly24Arg
ENST00000464296.1:c.70G>A ENSP00000417996.1:p.Gly24Arg
NM_001306193.1:c.70G>A NP_001293122.1:p.Gly24Arg
NM_194277.2:c.70G>A , LRG_867t1:c.70G>A NP_919253.1:p.Gly24Arg
XM_017029947.2:c.22G>A XP_016885436.1:p.Gly8Arg
XM_017029948.2:c.30-6565G>A XP_016885437.1:n.30-6565G>A
NM_001306193.2:c.70G>A NP_001293122.1:p.Gly24Arg
NM_194277.3:c.70G>A MANE Select NP_919253.1:p.Gly24Arg
Search 100 bp 5'
Search 100 bp 3'