Canonical Allele Identifier: CA255541
Gene: FRMD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 10785
ClinVar RCV Id: RCV000011532
dbSNP Id: rs137852209

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132097298C>T , CM000685.2:g.132097298C>T GRCh38
NC_000023.10:g.131231326C>T , CM000685.1:g.131231326C>T GRCh37
NC_000023.9:g.131059007C>T NCBI36
NG_012347.1:g.35725G>A , LRG_867:g.35725G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298542.9:c.252G>A MANE Select ENSP00000298542.3:p.Val84=
ENST00000298542.8:c.252G>A ENSP00000298542.3:p.Val84=
ENST00000464296.1:c.207G>A ENSP00000417996.1:p.Met69Ile
NM_001306193.1:c.207G>A NP_001293122.1:p.Met69Ile
NM_194277.2:c.252G>A , LRG_867t1:c.252G>A NP_919253.1:p.Val84=
XM_017029947.2:c.204G>A XP_016885436.1:p.Val68=
XM_017029948.2:c.30-3159G>A XP_016885437.1:n.30-3159G>A
NM_001306193.2:c.207G>A NP_001293122.1:p.Met69Ile
NM_194277.3:c.252G>A MANE Select NP_919253.1:p.Val84=