Canonical Allele Identifier: CA1141581485
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508643C= , CM000663.2:g.241508643C= GRCh38
NC_000001.10:g.241671943C= , CM000663.1:g.241671943C= GRCh37
NC_000001.9:g.239738566C= NCBI36
NG_012338.1:g.16112G= , LRG_504:g.16112G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1201G=
ENST00000682162.1:c.727G= ENSP00000508203.1:n.727G=
ENST00000682567.1:n.775G=
ENST00000683521.1:c.698G= ENSP00000506864.1:p.Arg233=
ENST00000684161.1:n.1913G=
ENST00000684483.1:c.*94G= ENSP00000507894.1:n.*94G=
ENST00000366560.4:c.698G= MANE Select ENSP00000355518.4:p.Arg233=
ENST00000366560.3:c.698G= ENSP00000355518.3:p.Arg233=
NM_000143.3:c.698G= , LRG_504t1:c.698G= NP_000134.2:p.Arg233=
XM_011544132.1:c.470G= XP_011542434.1:p.Arg157=
XM_011544132.2:c.470G= XP_011542434.1:p.Arg157=
NM_000143.4:c.698G= MANE Select NP_000134.2:p.Arg233=