Canonical Allele Identifier: CA1164693366

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504231dup , CM000663.2:g.241504231dup	GRCh38
NC_000001.10:g.241667531dup , CM000663.1:g.241667531dup	GRCh37
NC_000001.9:g.239734154dup	NCBI36
NG_012338.1:g.20524dup , LRG_504:g.20524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1422dup
ENST00000682162.1:c.948dup	ENSP00000508203.1:n.948dup
ENST00000682567.1:n.996dup
ENST00000683521.1:c.919dup	ENSP00000506864.1:p.Thr307AsnfsTer5
ENST00000684161.1:n.2134dup
ENST00000684483.1:c.*315dup	ENSP00000507894.1:n.*315dup
ENST00000366560.4:c.919dup MANE Select	ENSP00000355518.4:p.Thr307AsnfsTer5
ENST00000366560.3:c.919dup	ENSP00000355518.3:p.Thr307AsnfsTer5
NM_000143.3:c.919dup , LRG_504t1:c.919dup	NP_000134.2:p.Thr307AsnfsTer5
XM_011544132.1:c.691dup	XP_011542434.1:p.Thr231AsnfsTer5
XM_011544132.2:c.691dup	XP_011542434.1:p.Thr231AsnfsTer5
NM_000143.4:c.919dup MANE Select	NP_000134.2:p.Thr307AsnfsTer5