Canonical Allele Identifier: CA1229580663

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508688A= , CM000663.2:g.241508688A=	GRCh38
NC_000001.10:g.241671988A= , CM000663.1:g.241671988A=	GRCh37
NC_000001.9:g.239738611A=	NCBI36
NG_012338.1:g.16067T= , LRG_504:g.16067T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1156T=
ENST00000682162.1:c.682T=	ENSP00000508203.1:n.682T=
ENST00000682567.1:n.730T=
ENST00000683521.1:c.653T=	ENSP00000506864.1:p.Leu218=
ENST00000684161.1:n.1868T=
ENST00000684483.1:c.*49T=	ENSP00000507894.1:n.*49T=
ENST00000366560.4:c.653T= MANE Select	ENSP00000355518.4:p.Leu218=
ENST00000366560.3:c.653T=	ENSP00000355518.3:p.Leu218=
NM_000143.3:c.653T= , LRG_504t1:c.653T=	NP_000134.2:p.Leu218=
XM_011544132.1:c.425T=	XP_011542434.1:p.Leu142=
XM_011544132.2:c.425T=	XP_011542434.1:p.Leu142=
NM_000143.4:c.653T= MANE Select	NP_000134.2:p.Leu218=