Canonical Allele Identifier: CA10645952

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132082364T>G , CM000685.2:g.132082364T>G	GRCh38
NC_000023.10:g.131216392T>G , CM000685.1:g.131216392T>G	GRCh37
NC_000023.9:g.131044073T>G	NCBI36
NG_012347.1:g.50659A>C , LRG_867:g.50659A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.904A>C MANE Select	NP_919253.1:p.Ser302Arg
ENST00000298542.9:c.904A>C MANE Select	ENSP00000298542.3:p.Ser302Arg
NM_001306193.1:c.859A>C	NP_001293122.1:p.Ser287Arg
NM_001306193.2:c.859A>C	NP_001293122.1:p.Ser287Arg
NM_194277.2:c.904A>C , LRG_867t1:c.904A>C	NP_919253.1:p.Ser302Arg
ENST00000298542.8:c.904A>C	ENSP00000298542.3:p.Ser302Arg
ENST00000370879.5:c.544A>C	ENSP00000359916.1:p.Ser182Arg
ENST00000464296.1:c.859A>C	ENSP00000417996.1:p.Ser287Arg
XM_017029947.2:c.856A>C	XP_016885436.1:p.Ser286Arg
XM_017029948.2:c.649A>C	XP_016885437.1:p.Ser217Arg
XM_017029949.2:c.430A>C	XP_016885438.1:p.Ser144Arg