Canonical Allele Identifier: CA10519057

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132086048A>G , CM000685.2:g.132086048A>G	GRCh38
NC_000023.10:g.131220076A>G , CM000685.1:g.131220076A>G	GRCh37
NC_000023.9:g.131047757A>G	NCBI36
NG_012347.1:g.46975T>C , LRG_867:g.46975T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.383-14T>C MANE Select	NP_919253.1:n.383-14T>C
ENST00000298542.9:c.383-14T>C MANE Select	ENSP00000298542.3:n.383-14T>C
NM_001306193.1:c.338-14T>C	NP_001293122.1:n.338-14T>C
NM_001306193.2:c.338-14T>C	NP_001293122.1:n.338-14T>C
NM_194277.2:c.383-14T>C , LRG_867t1:c.383-14T>C	NP_919253.1:n.383-14T>C
ENST00000298542.8:c.383-14T>C	ENSP00000298542.3:n.383-14T>C
ENST00000370879.5:c.23-14T>C	ENSP00000359916.1:n.23-14T>C
ENST00000464296.1:c.338-14T>C	ENSP00000417996.1:n.338-14T>C
XM_017029947.2:c.335-14T>C	XP_016885436.1:n.335-14T>C
XM_017029948.2:c.128-14T>C	XP_016885437.1:n.128-14T>C
XM_017029949.2:c.-89-17T>C	XP_016885438.1:n.-89-17T>C