Canonical Allele Identifier: CA1229584135
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517297C= , CM000663.2:g.241517297C= GRCh38
NC_000001.10:g.241680597C= , CM000663.1:g.241680597C= GRCh37
NC_000001.9:g.239747220C= NCBI36
NG_012338.1:g.7458G= , LRG_504:g.7458G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.655G=
ENST00000682162.1:c.181G= ENSP00000508203.1:p.Gly61=
ENST00000682567.1:n.229G=
ENST00000683521.1:c.152G= ENSP00000506864.1:p.Arg51=
ENST00000684483.1:c.152G= ENSP00000507894.1:p.Arg51=
ENST00000366560.4:c.152G= MANE Select ENSP00000355518.4:p.Arg51=
ENST00000366560.3:c.152G= ENSP00000355518.3:p.Arg51=
ENST00000493477.1:n.265G=
NM_000143.3:c.152G= , LRG_504t1:c.152G= NP_000134.2:p.Arg51=
XM_011544132.1:c.-77G= XP_011542434.1:n.-77G=
XM_011544132.2:c.-77G= XP_011542434.1:n.-77G=
NM_000143.4:c.152G= MANE Select NP_000134.2:p.Arg51=