Canonical Allele Identifier: CA1229584127

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517279A= , CM000663.2:g.241517279A=	GRCh38
NC_000001.10:g.241680579A= , CM000663.1:g.241680579A=	GRCh37
NC_000001.9:g.239747202A=	NCBI36
NG_012338.1:g.7476T= , LRG_504:g.7476T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.673T=
ENST00000682162.1:c.199T=	ENSP00000508203.1:n.199T=
ENST00000682567.1:n.247T=
ENST00000683521.1:c.170T=	ENSP00000506864.1:p.Phe57=
ENST00000684483.1:c.170T=	ENSP00000507894.1:p.Phe57=
ENST00000366560.4:c.170T= MANE Select	ENSP00000355518.4:p.Phe57=
ENST00000366560.3:c.170T=	ENSP00000355518.3:p.Phe57=
ENST00000493477.1:n.283T=
NM_000143.3:c.170T= , LRG_504t1:c.170T=	NP_000134.2:p.Phe57=
XM_011544132.1:c.-59T=	XP_011542434.1:n.-59T=
XM_011544132.2:c.-59T=	XP_011542434.1:n.-59T=
NM_000143.4:c.170T= MANE Select	NP_000134.2:p.Phe57=