Canonical Allele Identifier: CA1229582035

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512016A= , CM000663.2:g.241512016A=	GRCh38
NC_000001.10:g.241675316A= , CM000663.1:g.241675316A=	GRCh37
NC_000001.9:g.239741939A=	NCBI36
NG_012338.1:g.12739T= , LRG_504:g.12739T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1009T=
ENST00000682162.1:c.535T=	ENSP00000508203.1:n.535T=
ENST00000682567.1:n.583T=
ENST00000683521.1:c.506T=	ENSP00000506864.1:p.Leu169=
ENST00000684483.1:c.506T=	ENSP00000507894.1:p.Leu169=
ENST00000366560.4:c.506T= MANE Select	ENSP00000355518.4:p.Leu169=
ENST00000366560.3:c.506T=	ENSP00000355518.3:p.Leu169=
ENST00000497042.1:n.202T=
NM_000143.3:c.506T= , LRG_504t1:c.506T=	NP_000134.2:p.Leu169=
XM_011544132.1:c.278T=	XP_011542434.1:p.Leu93=
XM_011544132.2:c.278T=	XP_011542434.1:p.Leu93=
NM_000143.4:c.506T= MANE Select	NP_000134.2:p.Leu169=