Canonical Allele Identifier: CA259720

Gene: FRMD7

Linked Data

• ClinVar Variation Id: 29976
• ClinVar RCV Id: RCV000022868
• dbSNP Id: rs387906720
• gnomAD v3: X-132084540-A-C
• gnomAD v4: X-132084540-A-C
• MyVariant Identifiers: chrX:g.131218568A>C (hg19) ; chrX:g.132084540A>C (hg38)
• PubMed: PMID:21303855

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132084540A>C , CM000685.2:g.132084540A>C	GRCh38
NC_000023.10:g.131218568A>C , CM000685.1:g.131218568A>C	GRCh37
NC_000023.9:g.131046249A>C	NCBI36
NG_012347.1:g.48483T>G , LRG_867:g.48483T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298542.9:c.691T>G MANE Select	ENSP00000298542.3:p.Leu231Val
ENST00000298542.8:c.691T>G	ENSP00000298542.3:p.Leu231Val
ENST00000370879.5:c.331T>G	ENSP00000359916.1:p.Leu111Val
ENST00000464296.1:c.646T>G	ENSP00000417996.1:p.Leu216Val
NM_001306193.1:c.646T>G	NP_001293122.1:p.Leu216Val
NM_194277.2:c.691T>G , LRG_867t1:c.691T>G	NP_919253.1:p.Leu231Val
XM_017029947.2:c.643T>G	XP_016885436.1:p.Leu215Val
XM_017029948.2:c.436T>G	XP_016885437.1:p.Leu146Val
XM_017029949.2:c.217T>G	XP_016885438.1:p.Leu73Val
NM_001306193.2:c.646T>G	NP_001293122.1:p.Leu216Val
NM_194277.3:c.691T>G MANE Select	NP_919253.1:p.Leu231Val