Canonical Allele Identifier: CA1229582067
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512087T= , CM000663.2:g.241512087T= GRCh38
NC_000001.10:g.241675387T= , CM000663.1:g.241675387T= GRCh37
NC_000001.9:g.239742010T= NCBI36
NG_012338.1:g.12668A= , LRG_504:g.12668A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.938A=
ENST00000682162.1:c.464A= ENSP00000508203.1:n.464A=
ENST00000682567.1:n.512A=
ENST00000683521.1:c.435A= ENSP00000506864.1:p.Ser145=
ENST00000684483.1:c.435A= ENSP00000507894.1:p.Ser145=
ENST00000366560.4:c.435A= MANE Select ENSP00000355518.4:p.Ser145=
ENST00000366560.3:c.435A= ENSP00000355518.3:p.Ser145=
ENST00000497042.1:n.131A=
NM_000143.3:c.435A= , LRG_504t1:c.435A= NP_000134.2:p.Ser145=
XM_011544132.1:c.207A= XP_011542434.1:p.Ser69=
XM_011544132.2:c.207A= XP_011542434.1:p.Ser69=
NM_000143.4:c.435A= MANE Select NP_000134.2:p.Ser145=