Canonical Allele Identifier: CA10518847

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132078484A>G , CM000685.2:g.132078484A>G	GRCh38
NC_000023.10:g.131212512A>G , CM000685.1:g.131212512A>G	GRCh37
NC_000023.9:g.131040193A>G	NCBI36
NG_012347.1:g.54539T>C , LRG_867:g.54539T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.1533T>C MANE Select	NP_919253.1:p.Ile511=
ENST00000298542.9:c.1533T>C MANE Select	ENSP00000298542.3:p.Ile511=
NM_001306193.1:c.1488T>C	NP_001293122.1:p.Ile496=
NM_001306193.2:c.1488T>C	NP_001293122.1:p.Ile496=
NM_194277.2:c.1533T>C , LRG_867t1:c.1533T>C	NP_919253.1:p.Ile511=
ENST00000298542.8:c.1533T>C	ENSP00000298542.3:p.Ile511=
ENST00000370879.5:c.1173T>C	ENSP00000359916.1:p.Ile391=
ENST00000464296.1:c.1488T>C	ENSP00000417996.1:p.Ile496=
XM_017029947.2:c.1485T>C	XP_016885436.1:p.Ile495=
XM_017029948.2:c.1278T>C	XP_016885437.1:p.Ile426=
XM_017029949.2:c.1059T>C	XP_016885438.1:p.Ile353=