Canonical Allele Identifier: CA1229578859

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504237A= , CM000663.2:g.241504237A=	GRCh38
NC_000001.10:g.241667537A= , CM000663.1:g.241667537A=	GRCh37
NC_000001.9:g.239734160A=	NCBI36
NG_012338.1:g.20518T= , LRG_504:g.20518T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1416T=
ENST00000682162.1:c.942T=	ENSP00000508203.1:n.942T=
ENST00000682567.1:n.990T=
ENST00000683521.1:c.913T=	ENSP00000506864.1:p.Phe305=
ENST00000684161.1:n.2128T=
ENST00000684483.1:c.*309T=	ENSP00000507894.1:n.*309T=
ENST00000366560.4:c.913T= MANE Select	ENSP00000355518.4:p.Phe305=
ENST00000366560.3:c.913T=	ENSP00000355518.3:p.Phe305=
NM_000143.3:c.913T= , LRG_504t1:c.913T=	NP_000134.2:p.Phe305=
XM_011544132.1:c.685T=	XP_011542434.1:p.Phe229=
XM_011544132.2:c.685T=	XP_011542434.1:p.Phe229=
NM_000143.4:c.913T= MANE Select	NP_000134.2:p.Phe305=