Canonical Allele Identifier: CA1229578776
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504056C= , CM000663.2:g.241504056C= GRCh38
NC_000001.10:g.241667356C= , CM000663.1:g.241667356C= GRCh37
NC_000001.9:g.239733979C= NCBI36
NG_012338.1:g.20699G= , LRG_504:g.20699G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1597G=
ENST00000682162.1:c.1123G= ENSP00000508203.1:n.1123G=
ENST00000682567.1:n.1171G=
ENST00000683521.1:c.1094G= ENSP00000506864.1:p.Ser365=
ENST00000684161.1:n.2309G=
ENST00000684483.1:c.*490G= ENSP00000507894.1:n.*490G=
ENST00000366560.4:c.1094G= MANE Select ENSP00000355518.4:p.Ser365=
ENST00000366560.3:c.1094G= ENSP00000355518.3:p.Ser365=
NM_000143.3:c.1094G= , LRG_504t1:c.1094G= NP_000134.2:p.Ser365=
XM_011544132.1:c.866G= XP_011542434.1:p.Ser289=
XM_011544132.2:c.866G= XP_011542434.1:p.Ser289=
NM_000143.4:c.1094G= MANE Select NP_000134.2:p.Ser365=