Canonical Allele Identifier: CA1144233430
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500534T= , CM000663.2:g.241500534T= GRCh38
NC_000001.10:g.241663834T= , CM000663.1:g.241663834T= GRCh37
NC_000001.9:g.239730457T= NCBI36
NG_012338.1:g.24221A= , LRG_504:g.24221A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1796A=
ENST00000682162.1:c.1322A= ENSP00000508203.1:n.1322A=
ENST00000682567.1:n.4693A=
ENST00000683521.1:c.1293A= ENSP00000506864.1:p.Thr431=
ENST00000684161.1:n.2508A=
ENST00000684483.1:c.*689A= ENSP00000507894.1:n.*689A=
ENST00000366560.4:c.1293A= MANE Select ENSP00000355518.4:p.Thr431=
ENST00000366560.3:c.1293A= ENSP00000355518.3:p.Thr431=
NM_000143.3:c.1293A= , LRG_504t1:c.1293A= NP_000134.2:p.Thr431=
XM_011544132.1:c.1065A= XP_011542434.1:p.Thr355=
XM_011544132.2:c.1065A= XP_011542434.1:p.Thr355=
NM_000143.4:c.1293A= MANE Select NP_000134.2:p.Thr431=