Canonical Allele Identifier: CA1148225113
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508646C= , CM000663.2:g.241508646C= GRCh38
NC_000001.10:g.241671946C= , CM000663.1:g.241671946C= GRCh37
NC_000001.9:g.239738569C= NCBI36
NG_012338.1:g.16109G= , LRG_504:g.16109G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1198G=
ENST00000682162.1:c.724G= ENSP00000508203.1:n.724G=
ENST00000682567.1:n.772G=
ENST00000683521.1:c.695G= ENSP00000506864.1:p.Gly232=
ENST00000684161.1:n.1910G=
ENST00000684483.1:c.*91G= ENSP00000507894.1:n.*91G=
ENST00000366560.4:c.695G= MANE Select ENSP00000355518.4:p.Gly232=
ENST00000366560.3:c.695G= ENSP00000355518.3:p.Gly232=
NM_000143.3:c.695G= , LRG_504t1:c.695G= NP_000134.2:p.Gly232=
XM_011544132.1:c.467G= XP_011542434.1:p.Gly156=
XM_011544132.2:c.467G= XP_011542434.1:p.Gly156=
NM_000143.4:c.695G= MANE Select NP_000134.2:p.Gly232=