Canonical Allele Identifier: CA1143867294
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508641T= , CM000663.2:g.241508641T= GRCh38
NC_000001.10:g.241671941T= , CM000663.1:g.241671941T= GRCh37
NC_000001.9:g.239738564T= NCBI36
NG_012338.1:g.16114A= , LRG_504:g.16114A=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1203A=
ENST00000682162.1:c.729A= ENSP00000508203.1:n.729A=
ENST00000682567.1:n.777A=
ENST00000683521.1:c.700A= ENSP00000506864.1:p.Thr234=
ENST00000684161.1:n.1915A=
ENST00000684483.1:c.*96A= ENSP00000507894.1:n.*96A=
ENST00000366560.4:c.700A= MANE Select ENSP00000355518.4:p.Thr234=
ENST00000366560.3:c.700A= ENSP00000355518.3:p.Thr234=
NM_000143.3:c.700A= , LRG_504t1:c.700A= NP_000134.2:p.Thr234=
XM_011544132.1:c.472A= XP_011542434.1:p.Thr158=
XM_011544132.2:c.472A= XP_011542434.1:p.Thr158=
NM_000143.4:c.700A= MANE Select NP_000134.2:p.Thr234=