Canonical Allele Identifier: CA1143390620

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504161G= , CM000663.2:g.241504161G=	GRCh38
NC_000001.10:g.241667461G= , CM000663.1:g.241667461G=	GRCh37
NC_000001.9:g.239734084G=	NCBI36
NG_012338.1:g.20594C= , LRG_504:g.20594C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1492C=
ENST00000682162.1:c.1018C=	ENSP00000508203.1:n.1018C=
ENST00000682567.1:n.1066C=
ENST00000683521.1:c.989C=	ENSP00000506864.1:p.Thr330=
ENST00000684161.1:n.2204C=
ENST00000684483.1:c.*385C=	ENSP00000507894.1:n.*385C=
ENST00000366560.4:c.989C= MANE Select	ENSP00000355518.4:p.Thr330=
ENST00000366560.3:c.989C=	ENSP00000355518.3:p.Thr330=
NM_000143.3:c.989C= , LRG_504t1:c.989C=	NP_000134.2:p.Thr330=
XM_011544132.1:c.761C=	XP_011542434.1:p.Thr254=
XM_011544132.2:c.761C=	XP_011542434.1:p.Thr254=
NM_000143.4:c.989C= MANE Select	NP_000134.2:p.Thr330=