Canonical Allele Identifier: CA1229578816

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504147G= , CM000663.2:g.241504147G=	GRCh38
NC_000001.10:g.241667447G= , CM000663.1:g.241667447G=	GRCh37
NC_000001.9:g.239734070G=	NCBI36
NG_012338.1:g.20608C= , LRG_504:g.20608C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1506C=
ENST00000682162.1:c.1032C=	ENSP00000508203.1:n.1032C=
ENST00000682567.1:n.1080C=
ENST00000683521.1:c.1003C=	ENSP00000506864.1:p.Leu335=
ENST00000684161.1:n.2218C=
ENST00000684483.1:c.*399C=	ENSP00000507894.1:n.*399C=
ENST00000366560.4:c.1003C= MANE Select	ENSP00000355518.4:p.Leu335=
ENST00000366560.3:c.1003C=	ENSP00000355518.3:p.Leu335=
NM_000143.3:c.1003C= , LRG_504t1:c.1003C=	NP_000134.2:p.Leu335=
XM_011544132.1:c.775C=	XP_011542434.1:p.Leu259=
XM_011544132.2:c.775C=	XP_011542434.1:p.Leu259=
NM_000143.4:c.1003C= MANE Select	NP_000134.2:p.Leu335=