Canonical Allele Identifier: CA1229578836
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504190A= , CM000663.2:g.241504190A= GRCh38
NC_000001.10:g.241667490A= , CM000663.1:g.241667490A= GRCh37
NC_000001.9:g.239734113A= NCBI36
NG_012338.1:g.20565T= , LRG_504:g.20565T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1463T=
ENST00000682162.1:c.989T= ENSP00000508203.1:n.989T=
ENST00000682567.1:n.1037T=
ENST00000683521.1:c.960T= ENSP00000506864.1:p.Ala320=
ENST00000684161.1:n.2175T=
ENST00000684483.1:c.*356T= ENSP00000507894.1:n.*356T=
ENST00000366560.4:c.960T= MANE Select ENSP00000355518.4:p.Ala320=
ENST00000366560.3:c.960T= ENSP00000355518.3:p.Ala320=
NM_000143.3:c.960T= , LRG_504t1:c.960T= NP_000134.2:p.Ala320=
XM_011544132.1:c.732T= XP_011542434.1:p.Ala244=
XM_011544132.2:c.732T= XP_011542434.1:p.Ala244=
NM_000143.4:c.960T= MANE Select NP_000134.2:p.Ala320=