Canonical Allele Identifier: CA1229578796

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504093G= , CM000663.2:g.241504093G=	GRCh38
NC_000001.10:g.241667393G= , CM000663.1:g.241667393G=	GRCh37
NC_000001.9:g.239734016G=	NCBI36
NG_012338.1:g.20662C= , LRG_504:g.20662C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1560C=
ENST00000682162.1:c.1086C=	ENSP00000508203.1:n.1086C=
ENST00000682567.1:n.1134C=
ENST00000683521.1:c.1057C=	ENSP00000506864.1:p.Leu353=
ENST00000684161.1:n.2272C=
ENST00000684483.1:c.*453C=	ENSP00000507894.1:n.*453C=
ENST00000366560.4:c.1057C= MANE Select	ENSP00000355518.4:p.Leu353=
ENST00000366560.3:c.1057C=	ENSP00000355518.3:p.Leu353=
NM_000143.3:c.1057C= , LRG_504t1:c.1057C=	NP_000134.2:p.Leu353=
XM_011544132.1:c.829C=	XP_011542434.1:p.Leu277=
XM_011544132.2:c.829C=	XP_011542434.1:p.Leu277=
NM_000143.4:c.1057C= MANE Select	NP_000134.2:p.Leu353=