Canonical Allele Identifier: CA1148439583
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508683C= , CM000663.2:g.241508683C= GRCh38
NC_000001.10:g.241671983C= , CM000663.1:g.241671983C= GRCh37
NC_000001.9:g.239738606C= NCBI36
NG_012338.1:g.16072G= , LRG_504:g.16072G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1161G=
ENST00000682162.1:c.687G= ENSP00000508203.1:n.687G=
ENST00000682567.1:n.735G=
ENST00000683521.1:c.658G= ENSP00000506864.1:p.Ala220=
ENST00000684161.1:n.1873G=
ENST00000684483.1:c.*54G= ENSP00000507894.1:n.*54G=
ENST00000366560.4:c.658G= MANE Select ENSP00000355518.4:p.Ala220=
ENST00000366560.3:c.658G= ENSP00000355518.3:p.Ala220=
NM_000143.3:c.658G= , LRG_504t1:c.658G= NP_000134.2:p.Ala220=
XM_011544132.1:c.430G= XP_011542434.1:p.Ala144=
XM_011544132.2:c.430G= XP_011542434.1:p.Ala144=
NM_000143.4:c.658G= MANE Select NP_000134.2:p.Ala220=