Canonical Allele Identifier: CA1229578840

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504199A= , CM000663.2:g.241504199A=	GRCh38
NC_000001.10:g.241667499A= , CM000663.1:g.241667499A=	GRCh37
NC_000001.9:g.239734122A=	NCBI36
NG_012338.1:g.20556T= , LRG_504:g.20556T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1454T=
ENST00000682162.1:c.980T=	ENSP00000508203.1:n.980T=
ENST00000682567.1:n.1028T=
ENST00000683521.1:c.951T=	ENSP00000506864.1:p.Ala317=
ENST00000684161.1:n.2166T=
ENST00000684483.1:c.*347T=	ENSP00000507894.1:n.*347T=
ENST00000366560.4:c.951T= MANE Select	ENSP00000355518.4:p.Ala317=
ENST00000366560.3:c.951T=	ENSP00000355518.3:p.Ala317=
NM_000143.3:c.951T= , LRG_504t1:c.951T=	NP_000134.2:p.Ala317=
XM_011544132.1:c.723T=	XP_011542434.1:p.Ala241=
XM_011544132.2:c.723T=	XP_011542434.1:p.Ala241=
NM_000143.4:c.951T= MANE Select	NP_000134.2:p.Ala317=