Canonical Allele Identifier: CA10518973

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132082426G>A , CM000685.2:g.132082426G>A	GRCh38
NC_000023.10:g.131216454G>A , CM000685.1:g.131216454G>A	GRCh37
NC_000023.9:g.131044135G>A	NCBI36
NG_012347.1:g.50597C>T , LRG_867:g.50597C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.842C>T MANE Select	NP_919253.1:p.Ser281Leu
ENST00000298542.9:c.842C>T MANE Select	ENSP00000298542.3:p.Ser281Leu
NM_001306193.1:c.797C>T	NP_001293122.1:p.Ser266Leu
NM_001306193.2:c.797C>T	NP_001293122.1:p.Ser266Leu
NM_194277.2:c.842C>T , LRG_867t1:c.842C>T	NP_919253.1:p.Ser281Leu
ENST00000298542.8:c.842C>T	ENSP00000298542.3:p.Ser281Leu
ENST00000370879.5:c.482C>T	ENSP00000359916.1:p.Ser161Leu
ENST00000464296.1:c.797C>T	ENSP00000417996.1:p.Ser266Leu
XM_017029947.2:c.794C>T	XP_016885436.1:p.Ser265Leu
XM_017029948.2:c.587C>T	XP_016885437.1:p.Ser196Leu
XM_017029949.2:c.368C>T	XP_016885438.1:p.Ser123Leu