Canonical Allele Identifier: CA1229580632
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508637T= , CM000663.2:g.241508637T= GRCh38
NC_000001.10:g.241671937T= , CM000663.1:g.241671937T= GRCh37
NC_000001.9:g.239738560T= NCBI36
NG_012338.1:g.16118A= , LRG_504:g.16118A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1207A=
ENST00000682162.1:c.733A= ENSP00000508203.1:n.733A=
ENST00000682567.1:n.781A=
ENST00000683521.1:c.704A= ENSP00000506864.1:p.His235=
ENST00000684161.1:n.1919A=
ENST00000684483.1:c.*100A= ENSP00000507894.1:n.*100A=
ENST00000366560.4:c.704A= MANE Select ENSP00000355518.4:p.His235=
ENST00000366560.3:c.704A= ENSP00000355518.3:p.His235=
NM_000143.3:c.704A= , LRG_504t1:c.704A= NP_000134.2:p.His235=
XM_011544132.1:c.476A= XP_011542434.1:p.His159=
XM_011544132.2:c.476A= XP_011542434.1:p.His159=
NM_000143.4:c.704A= MANE Select NP_000134.2:p.His235=