Canonical Allele Identifier: CA1229578143

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502500A= , CM000663.2:g.241502500A=	GRCh38
NC_000001.10:g.241665800A= , CM000663.1:g.241665800A=	GRCh37
NC_000001.9:g.239732423A=	NCBI36
NG_012338.1:g.22255T= , LRG_504:g.22255T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1682T=
ENST00000682162.1:c.1208T=	ENSP00000508203.1:n.1208T=
ENST00000682567.1:n.2727T=
ENST00000683521.1:c.1179T=	ENSP00000506864.1:p.Ala393=
ENST00000684161.1:n.2394T=
ENST00000684483.1:c.*575T=	ENSP00000507894.1:n.*575T=
ENST00000366560.4:c.1179T= MANE Select	ENSP00000355518.4:p.Ala393=
ENST00000366560.3:c.1179T=	ENSP00000355518.3:p.Ala393=
NM_000143.3:c.1179T= , LRG_504t1:c.1179T=	NP_000134.2:p.Ala393=
XM_011544132.1:c.951T=	XP_011542434.1:p.Ala317=
XM_011544132.2:c.951T=	XP_011542434.1:p.Ala317=
NM_000143.4:c.1179T= MANE Select	NP_000134.2:p.Ala393=