Canonical Allele Identifier: CA414681078

Gene: FRMD7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.132085646C>T , CM000685.2:g.132085646C>T	GRCh38
NC_000023.10:g.131219674C>T , CM000685.1:g.131219674C>T	GRCh37
NC_000023.9:g.131047355C>T	NCBI36
NG_012347.1:g.47377G>A , LRG_867:g.47377G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_194277.3:c.580G>A MANE Select	NP_919253.1:p.Ala194Thr
ENST00000298542.9:c.580G>A MANE Select	ENSP00000298542.3:p.Ala194Thr
NM_001306193.1:c.535G>A	NP_001293122.1:p.Ala179Thr
NM_001306193.2:c.535G>A	NP_001293122.1:p.Ala179Thr
NM_194277.2:c.580G>A , LRG_867t1:c.580G>A	NP_919253.1:p.Ala194Thr
ENST00000298542.8:c.580G>A	ENSP00000298542.3:p.Ala194Thr
ENST00000370879.5:c.220G>A	ENSP00000359916.1:p.Ala74Thr
ENST00000464296.1:c.535G>A	ENSP00000417996.1:p.Ala179Thr
XM_017029947.2:c.532G>A	XP_016885436.1:p.Ala178Thr
XM_017029948.2:c.325G>A	XP_016885437.1:p.Ala109Thr
XM_017029949.2:c.106G>A	XP_016885438.1:p.Ala36Thr