Canonical Allele Identifier: CA1229582044
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512032T= , CM000663.2:g.241512032T= GRCh38
NC_000001.10:g.241675332T= , CM000663.1:g.241675332T= GRCh37
NC_000001.9:g.239741955T= NCBI36
NG_012338.1:g.12723A= , LRG_504:g.12723A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.993A=
ENST00000682162.1:c.519A= ENSP00000508203.1:n.519A=
ENST00000682567.1:n.567A=
ENST00000683521.1:c.490A= ENSP00000506864.1:p.Met164=
ENST00000684483.1:c.490A= ENSP00000507894.1:p.Met164=
ENST00000366560.4:c.490A= MANE Select ENSP00000355518.4:p.Met164=
ENST00000366560.3:c.490A= ENSP00000355518.3:p.Met164=
ENST00000497042.1:n.186A=
NM_000143.3:c.490A= , LRG_504t1:c.490A= NP_000134.2:p.Met164=
XM_011544132.1:c.262A= XP_011542434.1:p.Met88=
XM_011544132.2:c.262A= XP_011542434.1:p.Met88=
NM_000143.4:c.490A= MANE Select NP_000134.2:p.Met164=