Canonical Allele Identifier: CA1478759

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517298G>A , CM000663.2:g.241517298G>A	GRCh38
NC_000001.10:g.241680598G>A , CM000663.1:g.241680598G>A	GRCh37
NC_000001.9:g.239747221G>A	NCBI36
NG_012338.1:g.7457C>T , LRG_504:g.7457C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.151C>T MANE Select	NP_000134.2:p.Arg51Trp
ENST00000366560.4:c.151C>T MANE Select	ENSP00000355518.4:p.Arg51Trp
NM_000143.3:c.151C>T , LRG_504t1:c.151C>T	NP_000134.2:p.Arg51Trp
ENST00000366560.3:c.151C>T	ENSP00000355518.3:p.Arg51Trp
ENST00000493477.1:n.264C>T
ENST00000493477.2:n.654C>T
ENST00000682162.1:c.180C>T	ENSP00000508203.1:p.Ser60=
ENST00000682567.1:n.228C>T
ENST00000683521.1:c.151C>T	ENSP00000506864.1:p.Arg51Trp
ENST00000684483.1:c.151C>T	ENSP00000507894.1:p.Arg51Trp
XM_011544132.1:c.-78C>T	XP_011542434.1:n.-78C>T
XM_011544132.2:c.-78C>T	XP_011542434.1:n.-78C>T