Canonical Allele Identifier: CA1229578817

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504149C= , CM000663.2:g.241504149C=	GRCh38
NC_000001.10:g.241667449C= , CM000663.1:g.241667449C=	GRCh37
NC_000001.9:g.239734072C=	NCBI36
NG_012338.1:g.20606G= , LRG_504:g.20606G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1504G=
ENST00000682162.1:c.1030G=	ENSP00000508203.1:n.1030G=
ENST00000682567.1:n.1078G=
ENST00000683521.1:c.1001G=	ENSP00000506864.1:p.Ser334=
ENST00000684161.1:n.2216G=
ENST00000684483.1:c.*397G=	ENSP00000507894.1:n.*397G=
ENST00000366560.4:c.1001G= MANE Select	ENSP00000355518.4:p.Ser334=
ENST00000366560.3:c.1001G=	ENSP00000355518.3:p.Ser334=
NM_000143.3:c.1001G= , LRG_504t1:c.1001G=	NP_000134.2:p.Ser334=
XM_011544132.1:c.773G=	XP_011542434.1:p.Ser258=
XM_011544132.2:c.773G=	XP_011542434.1:p.Ser258=
NM_000143.4:c.1001G= MANE Select	NP_000134.2:p.Ser334=