Canonical Allele Identifier: CA1229582053
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512057T= , CM000663.2:g.241512057T= GRCh38
NC_000001.10:g.241675357T= , CM000663.1:g.241675357T= GRCh37
NC_000001.9:g.239741980T= NCBI36
NG_012338.1:g.12698A= , LRG_504:g.12698A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.968A=
ENST00000682162.1:c.494A= ENSP00000508203.1:n.494A=
ENST00000682567.1:n.542A=
ENST00000683521.1:c.465A= ENSP00000506864.1:p.Glu155=
ENST00000684483.1:c.465A= ENSP00000507894.1:p.Glu155=
ENST00000366560.4:c.465A= MANE Select ENSP00000355518.4:p.Glu155=
ENST00000366560.3:c.465A= ENSP00000355518.3:p.Glu155=
ENST00000497042.1:n.161A=
NM_000143.3:c.465A= , LRG_504t1:c.465A= NP_000134.2:p.Glu155=
XM_011544132.1:c.237A= XP_011542434.1:p.Glu79=
XM_011544132.2:c.237A= XP_011542434.1:p.Glu79=
NM_000143.4:c.465A= MANE Select NP_000134.2:p.Glu155=