Canonical Allele Identifier: CA1229580662

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508687A= , CM000663.2:g.241508687A=	GRCh38
NC_000001.10:g.241671987A= , CM000663.1:g.241671987A=	GRCh37
NC_000001.9:g.239738610A=	NCBI36
NG_012338.1:g.16068T= , LRG_504:g.16068T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1157T=
ENST00000682162.1:c.683T=	ENSP00000508203.1:n.683T=
ENST00000682567.1:n.731T=
ENST00000683521.1:c.654T=	ENSP00000506864.1:p.Leu218=
ENST00000684161.1:n.1869T=
ENST00000684483.1:c.*50T=	ENSP00000507894.1:n.*50T=
ENST00000366560.4:c.654T= MANE Select	ENSP00000355518.4:p.Leu218=
ENST00000366560.3:c.654T=	ENSP00000355518.3:p.Leu218=
NM_000143.3:c.654T= , LRG_504t1:c.654T=	NP_000134.2:p.Leu218=
XM_011544132.1:c.426T=	XP_011542434.1:p.Leu142=
XM_011544132.2:c.426T=	XP_011542434.1:p.Leu142=
NM_000143.4:c.654T= MANE Select	NP_000134.2:p.Leu218=