Canonical Allele Identifier: CA1229577275

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500483C= , CM000663.2:g.241500483C=	GRCh38
NC_000001.10:g.241663783C= , CM000663.1:g.241663783C=	GRCh37
NC_000001.9:g.239730406C=	NCBI36
NG_012338.1:g.24272G= , LRG_504:g.24272G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1847G=
ENST00000682162.1:c.1373G=	ENSP00000508203.1:n.1373G=
ENST00000682567.1:n.4744G=
ENST00000683521.1:c.1344G=	ENSP00000506864.1:p.Leu448=
ENST00000684161.1:n.2559G=
ENST00000684483.1:c.*740G=	ENSP00000507894.1:n.*740G=
ENST00000366560.4:c.1344G= MANE Select	ENSP00000355518.4:p.Leu448=
ENST00000366560.3:c.1344G=	ENSP00000355518.3:p.Leu448=
NM_000143.3:c.1344G= , LRG_504t1:c.1344G=	NP_000134.2:p.Leu448=
XM_011544132.1:c.1116G=	XP_011542434.1:p.Leu372=
XM_011544132.2:c.1116G=	XP_011542434.1:p.Leu372=
NM_000143.4:c.1344G= MANE Select	NP_000134.2:p.Leu448=