Canonical Allele Identifier: CA1229580645
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508660C= , CM000663.2:g.241508660C= GRCh38
NC_000001.10:g.241671960C= , CM000663.1:g.241671960C= GRCh37
NC_000001.9:g.239738583C= NCBI36
NG_012338.1:g.16095G= , LRG_504:g.16095G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1184G=
ENST00000682162.1:c.710G= ENSP00000508203.1:n.710G=
ENST00000682567.1:n.758G=
ENST00000683521.1:c.681G= ENSP00000506864.1:p.Gln227=
ENST00000684161.1:n.1896G=
ENST00000684483.1:c.*77G= ENSP00000507894.1:n.*77G=
ENST00000366560.4:c.681G= MANE Select ENSP00000355518.4:p.Gln227=
ENST00000366560.3:c.681G= ENSP00000355518.3:p.Gln227=
NM_000143.3:c.681G= , LRG_504t1:c.681G= NP_000134.2:p.Gln227=
XM_011544132.1:c.453G= XP_011542434.1:p.Gln151=
XM_011544132.2:c.453G= XP_011542434.1:p.Gln151=
NM_000143.4:c.681G= MANE Select NP_000134.2:p.Gln227=