Canonical Allele Identifier: CA1229580633
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508638G= , CM000663.2:g.241508638G= GRCh38
NC_000001.10:g.241671938G= , CM000663.1:g.241671938G= GRCh37
NC_000001.9:g.239738561G= NCBI36
NG_012338.1:g.16117C= , LRG_504:g.16117C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1206C=
ENST00000682162.1:c.732C= ENSP00000508203.1:n.732C=
ENST00000682567.1:n.780C=
ENST00000683521.1:c.703C= ENSP00000506864.1:p.His235=
ENST00000684161.1:n.1918C=
ENST00000684483.1:c.*99C= ENSP00000507894.1:n.*99C=
ENST00000366560.4:c.703C= MANE Select ENSP00000355518.4:p.His235=
ENST00000366560.3:c.703C= ENSP00000355518.3:p.His235=
NM_000143.3:c.703C= , LRG_504t1:c.703C= NP_000134.2:p.His235=
XM_011544132.1:c.475C= XP_011542434.1:p.His159=
XM_011544132.2:c.475C= XP_011542434.1:p.His159=
NM_000143.4:c.703C= MANE Select NP_000134.2:p.His235=