Canonical Allele Identifier: CA1229578801
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504102G= , CM000663.2:g.241504102G= GRCh38
NC_000001.10:g.241667402G= , CM000663.1:g.241667402G= GRCh37
NC_000001.9:g.239734025G= NCBI36
NG_012338.1:g.20653C= , LRG_504:g.20653C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1551C=
ENST00000682162.1:c.1077C= ENSP00000508203.1:n.1077C=
ENST00000682567.1:n.1125C=
ENST00000683521.1:c.1048C= ENSP00000506864.1:p.Arg350=
ENST00000684161.1:n.2263C=
ENST00000684483.1:c.*444C= ENSP00000507894.1:n.*444C=
ENST00000366560.4:c.1048C= MANE Select ENSP00000355518.4:p.Arg350=
ENST00000366560.3:c.1048C= ENSP00000355518.3:p.Arg350=
NM_000143.3:c.1048C= , LRG_504t1:c.1048C= NP_000134.2:p.Arg350=
XM_011544132.1:c.820C= XP_011542434.1:p.Arg274=
XM_011544132.2:c.820C= XP_011542434.1:p.Arg274=
NM_000143.4:c.1048C= MANE Select NP_000134.2:p.Arg350=