Canonical Allele Identifier: CA10519091

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132097256A>C , CM000685.2:g.132097256A>C	GRCh38
NC_000023.10:g.131231284A>C , CM000685.1:g.131231284A>C	GRCh37
NC_000023.9:g.131058965A>C	NCBI36
NG_012347.1:g.35767T>G , LRG_867:g.35767T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.284+10T>G MANE Select	NP_919253.1:n.284+10T>G
ENST00000298542.9:c.284+10T>G MANE Select	ENSP00000298542.3:n.284+10T>G
NM_001306193.1:c.239+10T>G	NP_001293122.1:n.239+10T>G
NM_001306193.2:c.239+10T>G	NP_001293122.1:n.239+10T>G
NM_194277.2:c.284+10T>G , LRG_867t1:c.284+10T>G	NP_919253.1:n.284+10T>G
ENST00000298542.8:c.284+10T>G	ENSP00000298542.3:n.284+10T>G
ENST00000464296.1:c.239+10T>G	ENSP00000417996.1:n.239+10T>G
XM_017029947.2:c.236+10T>G	XP_016885436.1:n.236+10T>G
XM_017029948.2:c.30-3117T>G	XP_016885437.1:n.30-3117T>G