Canonical Allele Identifier: CA1229584136
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517298G= , CM000663.2:g.241517298G= GRCh38
NC_000001.10:g.241680598G= , CM000663.1:g.241680598G= GRCh37
NC_000001.9:g.239747221G= NCBI36
NG_012338.1:g.7457C= , LRG_504:g.7457C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.654C=
ENST00000682162.1:c.180C= ENSP00000508203.1:p.Ser60=
ENST00000682567.1:n.228C=
ENST00000683521.1:c.151C= ENSP00000506864.1:p.Arg51=
ENST00000684483.1:c.151C= ENSP00000507894.1:p.Arg51=
ENST00000366560.4:c.151C= MANE Select ENSP00000355518.4:p.Arg51=
ENST00000366560.3:c.151C= ENSP00000355518.3:p.Arg51=
ENST00000493477.1:n.264C=
NM_000143.3:c.151C= , LRG_504t1:c.151C= NP_000134.2:p.Arg51=
XM_011544132.1:c.-78C= XP_011542434.1:n.-78C=
XM_011544132.2:c.-78C= XP_011542434.1:n.-78C=
NM_000143.4:c.151C= MANE Select NP_000134.2:p.Arg51=