Canonical Allele Identifier: CA255545

Gene: FRMD7

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
NM_194277.3:c.70G>A MANE Select	NP_919253.1:p.Gly24Arg
ENST00000298542.9:c.70G>A MANE Select	ENSP00000298542.3:p.Gly24Arg
NM_001306193.1:c.70G>A	NP_001293122.1:p.Gly24Arg
NM_001306193.2:c.70G>A	NP_001293122.1:p.Gly24Arg
NM_194277.2:c.70G>A , LRG_867t1:c.70G>A	NP_919253.1:p.Gly24Arg
ENST00000298542.8:c.70G>A	ENSP00000298542.3:p.Gly24Arg
ENST00000464296.1:c.70G>A	ENSP00000417996.1:p.Gly24Arg
ENST00000687717.1:n.328G>A
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