Canonical Allele Identifier: CA3250111937

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504108del , CM000663.2:g.241504108del	GRCh38
NC_000001.10:g.241667408del , CM000663.1:g.241667408del	GRCh37
NC_000001.9:g.239734031del	NCBI36
NG_012338.1:g.20648del , LRG_504:g.20648del

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.1043del MANE Select	NP_000134.2:p.Gly348ValfsTer9
ENST00000366560.4:c.1043del MANE Select	ENSP00000355518.4:p.Gly348ValfsTer9
NM_000143.3:c.1043del , LRG_504t1:c.1043del	NP_000134.2:p.Gly348ValfsTer9
ENST00000366560.3:c.1043del	ENSP00000355518.3:p.Gly348ValfsTer9
ENST00000493477.2:n.1546del
ENST00000682162.1:c.1072del	ENSP00000508203.1:n.1072del
ENST00000682567.1:n.1120del
ENST00000683521.1:c.1043del	ENSP00000506864.1:p.Gly348ValfsTer9
ENST00000684161.1:n.2258del
ENST00000684483.1:c.*439del	ENSP00000507894.1:n.*439del
XM_011544132.1:c.815del	XP_011542434.1:p.Gly272ValfsTer9
XM_011544132.2:c.815del	XP_011542434.1:p.Gly272ValfsTer9