Canonical Allele Identifier: CA10519077

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132094116T>G , CM000685.2:g.132094116T>G	GRCh38
NC_000023.10:g.131228144T>G , CM000685.1:g.131228144T>G	GRCh37
NC_000023.9:g.131055825T>G	NCBI36
NG_012347.1:g.38907A>C , LRG_867:g.38907A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.308A>C MANE Select	NP_919253.1:p.Lys103Thr
ENST00000298542.9:c.308A>C MANE Select	ENSP00000298542.3:p.Lys103Thr
NM_001306193.1:c.263A>C	NP_001293122.1:p.Lys88Thr
NM_001306193.2:c.263A>C	NP_001293122.1:p.Lys88Thr
NM_194277.2:c.308A>C , LRG_867t1:c.308A>C	NP_919253.1:p.Lys103Thr
ENST00000298542.8:c.308A>C	ENSP00000298542.3:p.Lys103Thr
ENST00000370879.5:c.-53A>C	ENSP00000359916.1:n.-53A>C
ENST00000464296.1:c.263A>C	ENSP00000417996.1:p.Lys88Thr
XM_017029947.2:c.260A>C	XP_016885436.1:p.Lys87Thr
XM_017029948.2:c.53A>C	XP_016885437.1:p.Lys18Thr
XM_017029949.2:c.-164A>C	XP_016885438.1:n.-164A>C