Canonical Allele Identifier: CA2586968574

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504193_241504196del , CM000663.2:g.241504193_241504196del	GRCh38
NC_000001.10:g.241667493_241667496del , CM000663.1:g.241667493_241667496del	GRCh37
NC_000001.9:g.239734116_239734119del	NCBI36
NG_012338.1:g.20559_20562del , LRG_504:g.20559_20562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1457_1460del
ENST00000682162.1:c.983_986del	ENSP00000508203.1:n.983_986del
ENST00000682567.1:n.1031_1034del
ENST00000683521.1:c.954_957del	ENSP00000506864.1:p.His318GlnfsTer10
ENST00000684161.1:n.2169_2172del
ENST00000684483.1:c.*350_*353del	ENSP00000507894.1:n.*350_*353del
ENST00000366560.4:c.954_957del MANE Select	ENSP00000355518.4:p.His318GlnfsTer10
ENST00000366560.3:c.954_957del	ENSP00000355518.3:p.His318GlnfsTer10
NM_000143.3:c.954_957del , LRG_504t1:c.954_957del	NP_000134.2:p.His318GlnfsTer10
XM_011544132.1:c.726_729del	XP_011542434.1:p.His242GlnfsTer10
XM_011544132.2:c.726_729del	XP_011542434.1:p.His242GlnfsTer10
NM_000143.4:c.954_957del MANE Select	NP_000134.2:p.His318GlnfsTer10