Canonical Allele Identifier: CA1229584142

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517310G= , CM000663.2:g.241517310G=	GRCh38
NC_000001.10:g.241680610G= , CM000663.1:g.241680610G=	GRCh37
NC_000001.9:g.239747233G=	NCBI36
NG_012338.1:g.7445C= , LRG_504:g.7445C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.642C=
ENST00000682162.1:c.168C=	ENSP00000508203.1:p.Ala56=
ENST00000682567.1:n.216C=
ENST00000683521.1:c.139C=	ENSP00000506864.1:p.Gln47=
ENST00000684483.1:c.139C=	ENSP00000507894.1:p.Gln47=
ENST00000366560.4:c.139C= MANE Select	ENSP00000355518.4:p.Gln47=
ENST00000366560.3:c.139C=	ENSP00000355518.3:p.Gln47=
ENST00000493477.1:n.252C=
NM_000143.3:c.139C= , LRG_504t1:c.139C=	NP_000134.2:p.Gln47=
XM_011544132.1:c.-90C=	XP_011542434.1:n.-90C=
XM_011544132.2:c.-90C=	XP_011542434.1:n.-90C=
NM_000143.4:c.139C= MANE Select	NP_000134.2:p.Gln47=