Canonical Allele Identifier: CA1229578868
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504248A= , CM000663.2:g.241504248A= GRCh38
NC_000001.10:g.241667548A= , CM000663.1:g.241667548A= GRCh37
NC_000001.9:g.239734171A= NCBI36
NG_012338.1:g.20507T= , LRG_504:g.20507T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-3T=
ENST00000682162.1:c.934-3T= ENSP00000508203.1:n.934-3T=
ENST00000682567.1:n.982-3T=
ENST00000683521.1:c.905-3T= ENSP00000506864.1:n.905-3T=
ENST00000684161.1:n.2120-3T=
ENST00000684483.1:c.*301-3T= ENSP00000507894.1:n.*301-3T=
ENST00000366560.4:c.905-3T= MANE Select ENSP00000355518.4:n.905-3T=
ENST00000366560.3:c.905-3T= ENSP00000355518.3:n.905-3T=
NM_000143.3:c.905-3T= , LRG_504t1:c.905-3T= NP_000134.2:n.905-3T=
XM_011544132.1:c.677-3T= XP_011542434.1:n.677-3T=
XM_011544132.2:c.677-3T= XP_011542434.1:n.677-3T=
NM_000143.4:c.905-3T= MANE Select NP_000134.2:n.905-3T=