Canonical Allele Identifier: CA1229584137

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517301A= , CM000663.2:g.241517301A=	GRCh38
NC_000001.10:g.241680601A= , CM000663.1:g.241680601A=	GRCh37
NC_000001.9:g.239747224A=	NCBI36
NG_012338.1:g.7454T= , LRG_504:g.7454T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.651T=
ENST00000682162.1:c.177T=	ENSP00000508203.1:p.Pro59=
ENST00000682567.1:n.225T=
ENST00000683521.1:c.148T=	ENSP00000506864.1:p.Phe50=
ENST00000684483.1:c.148T=	ENSP00000507894.1:p.Phe50=
ENST00000366560.4:c.148T= MANE Select	ENSP00000355518.4:p.Phe50=
ENST00000366560.3:c.148T=	ENSP00000355518.3:p.Phe50=
ENST00000493477.1:n.261T=
NM_000143.3:c.148T= , LRG_504t1:c.148T=	NP_000134.2:p.Phe50=
XM_011544132.1:c.-81T=	XP_011542434.1:n.-81T=
XM_011544132.2:c.-81T=	XP_011542434.1:n.-81T=
NM_000143.4:c.148T= MANE Select	NP_000134.2:p.Phe50=