Canonical Allele Identifier: CA1229578128
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502477C= , CM000663.2:g.241502477C= GRCh38
NC_000001.10:g.241665777C= , CM000663.1:g.241665777C= GRCh37
NC_000001.9:g.239732400C= NCBI36
NG_012338.1:g.22278G= , LRG_504:g.22278G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1705G=
ENST00000682162.1:c.1231G= ENSP00000508203.1:n.1231G=
ENST00000682567.1:n.2750G=
ENST00000683521.1:c.1202G= ENSP00000506864.1:p.Gly401=
ENST00000684161.1:n.2417G=
ENST00000684483.1:c.*598G= ENSP00000507894.1:n.*598G=
ENST00000366560.4:c.1202G= MANE Select ENSP00000355518.4:p.Gly401=
ENST00000366560.3:c.1202G= ENSP00000355518.3:p.Gly401=
NM_000143.3:c.1202G= , LRG_504t1:c.1202G= NP_000134.2:p.Gly401=
XM_011544132.1:c.974G= XP_011542434.1:p.Gly325=
XM_011544132.2:c.974G= XP_011542434.1:p.Gly325=
NM_000143.4:c.1202G= MANE Select NP_000134.2:p.Gly401=