Canonical Allele Identifier: CA10518967

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132082393A>G , CM000685.2:g.132082393A>G	GRCh38
NC_000023.10:g.131216421A>G , CM000685.1:g.131216421A>G	GRCh37
NC_000023.9:g.131044102A>G	NCBI36
NG_012347.1:g.50630T>C , LRG_867:g.50630T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.875T>C MANE Select	NP_919253.1:p.Leu292Pro
ENST00000298542.9:c.875T>C MANE Select	ENSP00000298542.3:p.Leu292Pro
NM_001306193.1:c.830T>C	NP_001293122.1:p.Leu277Pro
NM_001306193.2:c.830T>C	NP_001293122.1:p.Leu277Pro
NM_194277.2:c.875T>C , LRG_867t1:c.875T>C	NP_919253.1:p.Leu292Pro
ENST00000298542.8:c.875T>C	ENSP00000298542.3:p.Leu292Pro
ENST00000370879.5:c.515T>C	ENSP00000359916.1:p.Leu172Pro
ENST00000464296.1:c.830T>C	ENSP00000417996.1:p.Leu277Pro
XM_017029947.2:c.827T>C	XP_016885436.1:p.Leu276Pro
XM_017029948.2:c.620T>C	XP_016885437.1:p.Leu207Pro
XM_017029949.2:c.401T>C	XP_016885438.1:p.Leu134Pro