Canonical Allele Identifier: CA1229580644
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508659T= , CM000663.2:g.241508659T= GRCh38
NC_000001.10:g.241671959T= , CM000663.1:g.241671959T= GRCh37
NC_000001.9:g.239738582T= NCBI36
NG_012338.1:g.16096A= , LRG_504:g.16096A=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1185A=
ENST00000682162.1:c.711A= ENSP00000508203.1:n.711A=
ENST00000682567.1:n.759A=
ENST00000683521.1:c.682A= ENSP00000506864.1:p.Ile228=
ENST00000684161.1:n.1897A=
ENST00000684483.1:c.*78A= ENSP00000507894.1:n.*78A=
ENST00000366560.4:c.682A= MANE Select ENSP00000355518.4:p.Ile228=
ENST00000366560.3:c.682A= ENSP00000355518.3:p.Ile228=
NM_000143.3:c.682A= , LRG_504t1:c.682A= NP_000134.2:p.Ile228=
XM_011544132.1:c.454A= XP_011542434.1:p.Ile152=
XM_011544132.2:c.454A= XP_011542434.1:p.Ile152=
NM_000143.4:c.682A= MANE Select NP_000134.2:p.Ile228=