Canonical Allele Identifier: CA1229578169
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502559G= , CM000663.2:g.241502559G= GRCh38
NC_000001.10:g.241665859G= , CM000663.1:g.241665859G= GRCh37
NC_000001.9:g.239732482G= NCBI36
NG_012338.1:g.22196C= , LRG_504:g.22196C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1623C=
ENST00000682162.1:c.1149C= ENSP00000508203.1:n.1149C=
ENST00000682567.1:n.2668C=
ENST00000683521.1:c.1120C= ENSP00000506864.1:p.Pro374=
ENST00000684161.1:n.2335C=
ENST00000684483.1:c.*516C= ENSP00000507894.1:n.*516C=
ENST00000366560.4:c.1120C= MANE Select ENSP00000355518.4:p.Pro374=
ENST00000366560.3:c.1120C= ENSP00000355518.3:p.Pro374=
NM_000143.3:c.1120C= , LRG_504t1:c.1120C= NP_000134.2:p.Pro374=
XM_011544132.1:c.892C= XP_011542434.1:p.Pro298=
XM_011544132.2:c.892C= XP_011542434.1:p.Pro298=
NM_000143.4:c.1120C= MANE Select NP_000134.2:p.Pro374=