Canonical Allele Identifier: CA414680290

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132080266A>C , CM000685.2:g.132080266A>C	GRCh38
NC_000023.10:g.131214294A>C , CM000685.1:g.131214294A>C	GRCh37
NC_000023.9:g.131041975A>C	NCBI36
NG_012347.1:g.52757T>G , LRG_867:g.52757T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.906T>G MANE Select	NP_919253.1:p.Ser302Arg
ENST00000298542.9:c.906T>G MANE Select	ENSP00000298542.3:p.Ser302Arg
NM_001306193.1:c.861T>G	NP_001293122.1:p.Ser287Arg
NM_001306193.2:c.861T>G	NP_001293122.1:p.Ser287Arg
NM_194277.2:c.906T>G , LRG_867t1:c.906T>G	NP_919253.1:p.Ser302Arg
ENST00000298542.8:c.906T>G	ENSP00000298542.3:p.Ser302Arg
ENST00000370879.5:c.546T>G	ENSP00000359916.1:p.Ser182Arg
ENST00000464296.1:c.861T>G	ENSP00000417996.1:p.Ser287Arg
XM_017029947.2:c.858T>G	XP_016885436.1:p.Ser286Arg
XM_017029948.2:c.651T>G	XP_016885437.1:p.Ser217Arg
XM_017029949.2:c.432T>G	XP_016885438.1:p.Ser144Arg