Canonical Allele Identifier: CA1229580628
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508633A= , CM000663.2:g.241508633A= GRCh38
NC_000001.10:g.241671933A= , CM000663.1:g.241671933A= GRCh37
NC_000001.9:g.239738556A= NCBI36
NG_012338.1:g.16122T= , LRG_504:g.16122T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1211T=
ENST00000682162.1:c.737T= ENSP00000508203.1:n.737T=
ENST00000682567.1:n.785T=
ENST00000683521.1:c.708T= ENSP00000506864.1:p.Thr236=
ENST00000684161.1:n.1923T=
ENST00000684483.1:c.*104T= ENSP00000507894.1:n.*104T=
ENST00000366560.4:c.708T= MANE Select ENSP00000355518.4:p.Thr236=
ENST00000366560.3:c.708T= ENSP00000355518.3:p.Thr236=
NM_000143.3:c.708T= , LRG_504t1:c.708T= NP_000134.2:p.Thr236=
XM_011544132.1:c.480T= XP_011542434.1:p.Thr160=
XM_011544132.2:c.480T= XP_011542434.1:p.Thr160=
NM_000143.4:c.708T= MANE Select NP_000134.2:p.Thr236=