Canonical Allele Identifier: CA1143523345

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517290T= , CM000663.2:g.241517290T=	GRCh38
NC_000001.10:g.241680590T= , CM000663.1:g.241680590T=	GRCh37
NC_000001.9:g.239747213T=	NCBI36
NG_012338.1:g.7465A= , LRG_504:g.7465A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.662A=
ENST00000682162.1:c.188A=	ENSP00000508203.1:n.188A=
ENST00000682567.1:n.236A=
ENST00000683521.1:c.159A=	ENSP00000506864.1:p.Glu53=
ENST00000684483.1:c.159A=	ENSP00000507894.1:p.Glu53=
ENST00000366560.4:c.159A= MANE Select	ENSP00000355518.4:p.Glu53=
ENST00000366560.3:c.159A=	ENSP00000355518.3:p.Glu53=
ENST00000493477.1:n.272A=
NM_000143.3:c.159A= , LRG_504t1:c.159A=	NP_000134.2:p.Glu53=
XM_011544132.1:c.-70A=	XP_011542434.1:n.-70A=
XM_011544132.2:c.-70A=	XP_011542434.1:n.-70A=
NM_000143.4:c.159A= MANE Select	NP_000134.2:p.Glu53=