Canonical Allele Identifier: CA1148225106
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502525G= , CM000663.2:g.241502525G= GRCh38
NC_000001.10:g.241665825G= , CM000663.1:g.241665825G= GRCh37
NC_000001.9:g.239732448G= NCBI36
NG_012338.1:g.22230C= , LRG_504:g.22230C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1657C=
ENST00000682162.1:c.1183C= ENSP00000508203.1:n.1183C=
ENST00000682567.1:n.2702C=
ENST00000683521.1:c.1154C= ENSP00000506864.1:p.Ala385=
ENST00000684161.1:n.2369C=
ENST00000684483.1:c.*550C= ENSP00000507894.1:n.*550C=
ENST00000366560.4:c.1154C= MANE Select ENSP00000355518.4:p.Ala385=
ENST00000366560.3:c.1154C= ENSP00000355518.3:p.Ala385=
NM_000143.3:c.1154C= , LRG_504t1:c.1154C= NP_000134.2:p.Ala385=
XM_011544132.1:c.926C= XP_011542434.1:p.Ala309=
XM_011544132.2:c.926C= XP_011542434.1:p.Ala309=
NM_000143.4:c.1154C= MANE Select NP_000134.2:p.Ala385=