Canonical Allele Identifier: CA10518829

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132078302G>T , CM000685.2:g.132078302G>T	GRCh38
NC_000023.10:g.131212330G>T , CM000685.1:g.131212330G>T	GRCh37
NC_000023.9:g.131040011G>T	NCBI36
NG_012347.1:g.54721C>A , LRG_867:g.54721C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.1715C>A MANE Select	NP_919253.1:p.Pro572Gln
ENST00000298542.9:c.1715C>A MANE Select	ENSP00000298542.3:p.Pro572Gln
NM_001306193.1:c.1670C>A	NP_001293122.1:p.Pro557Gln
NM_001306193.2:c.1670C>A	NP_001293122.1:p.Pro557Gln
NM_194277.2:c.1715C>A , LRG_867t1:c.1715C>A	NP_919253.1:p.Pro572Gln
ENST00000298542.8:c.1715C>A	ENSP00000298542.3:p.Pro572Gln
ENST00000370879.5:c.1355C>A	ENSP00000359916.1:p.Pro452Gln
ENST00000464296.1:c.1670C>A	ENSP00000417996.1:p.Pro557Gln
XM_017029947.2:c.1667C>A	XP_016885436.1:p.Pro556Gln
XM_017029948.2:c.1460C>A	XP_016885437.1:p.Pro487Gln
XM_017029949.2:c.1241C>A	XP_016885438.1:p.Pro414Gln