Canonical Allele Identifier: CA1229584129
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517283T= , CM000663.2:g.241517283T= GRCh38
NC_000001.10:g.241680583T= , CM000663.1:g.241680583T= GRCh37
NC_000001.9:g.239747206T= NCBI36
NG_012338.1:g.7472A= , LRG_504:g.7472A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.669A=
ENST00000682162.1:c.195A= ENSP00000508203.1:n.195A=
ENST00000682567.1:n.243A=
ENST00000683521.1:c.166A= ENSP00000506864.1:p.Thr56=
ENST00000684483.1:c.166A= ENSP00000507894.1:p.Thr56=
ENST00000366560.4:c.166A= MANE Select ENSP00000355518.4:p.Thr56=
ENST00000366560.3:c.166A= ENSP00000355518.3:p.Thr56=
ENST00000493477.1:n.279A=
NM_000143.3:c.166A= , LRG_504t1:c.166A= NP_000134.2:p.Thr56=
XM_011544132.1:c.-63A= XP_011542434.1:n.-63A=
XM_011544132.2:c.-63A= XP_011542434.1:n.-63A=
NM_000143.4:c.166A= MANE Select NP_000134.2:p.Thr56=