Canonical Allele Identifier: CA1139912256
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500525G= , CM000663.2:g.241500525G= GRCh38
NC_000001.10:g.241663825G= , CM000663.1:g.241663825G= GRCh37
NC_000001.9:g.239730448G= NCBI36
NG_012338.1:g.24230C= , LRG_504:g.24230C=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.1302C= MANE Select NP_000134.2:p.Cys434=
ENST00000366560.4:c.1302C= MANE Select ENSP00000355518.4:p.Cys434=
NM_000143.3:c.1302C= , LRG_504t1:c.1302C= NP_000134.2:p.Cys434=
ENST00000366560.3:c.1302C= ENSP00000355518.3:p.Cys434=
ENST00000493477.2:n.1805C=
ENST00000682162.1:c.1331C= ENSP00000508203.1:n.1331C=
ENST00000682567.1:n.4702C=
ENST00000683521.1:c.1302C= ENSP00000506864.1:p.Cys434=
ENST00000684161.1:n.2517C=
ENST00000684483.1:c.*698C= ENSP00000507894.1:n.*698C=
XM_011544132.1:c.1074C= XP_011542434.1:p.Cys358=
XM_011544132.2:c.1074C= XP_011542434.1:p.Cys358=