Canonical Allele Identifier: CA1229578854
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504229A= , CM000663.2:g.241504229A= GRCh38
NC_000001.10:g.241667529A= , CM000663.1:g.241667529A= GRCh37
NC_000001.9:g.239734152A= NCBI36
NG_012338.1:g.20526T= , LRG_504:g.20526T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1424T=
ENST00000682162.1:c.950T= ENSP00000508203.1:n.950T=
ENST00000682567.1:n.998T=
ENST00000683521.1:c.921T= ENSP00000506864.1:p.Thr307=
ENST00000684161.1:n.2136T=
ENST00000684483.1:c.*317T= ENSP00000507894.1:n.*317T=
ENST00000366560.4:c.921T= MANE Select ENSP00000355518.4:p.Thr307=
ENST00000366560.3:c.921T= ENSP00000355518.3:p.Thr307=
NM_000143.3:c.921T= , LRG_504t1:c.921T= NP_000134.2:p.Thr307=
XM_011544132.1:c.693T= XP_011542434.1:p.Thr231=
XM_011544132.2:c.693T= XP_011542434.1:p.Thr231=
NM_000143.4:c.921T= MANE Select NP_000134.2:p.Thr307=