Canonical Allele Identifier: CA1229578864
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504244G= , CM000663.2:g.241504244G= GRCh38
NC_000001.10:g.241667544G= , CM000663.1:g.241667544G= GRCh37
NC_000001.9:g.239734167G= NCBI36
NG_012338.1:g.20511C= , LRG_504:g.20511C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1409C=
ENST00000682162.1:c.935C= ENSP00000508203.1:n.935C=
ENST00000682567.1:n.983C=
ENST00000683521.1:c.906C= ENSP00000506864.1:p.Gly302=
ENST00000684161.1:n.2121C=
ENST00000684483.1:c.*302C= ENSP00000507894.1:n.*302C=
ENST00000366560.4:c.906C= MANE Select ENSP00000355518.4:p.Gly302=
ENST00000366560.3:c.906C= ENSP00000355518.3:p.Gly302=
NM_000143.3:c.906C= , LRG_504t1:c.906C= NP_000134.2:p.Gly302=
XM_011544132.1:c.678C= XP_011542434.1:p.Gly226=
XM_011544132.2:c.678C= XP_011542434.1:p.Gly226=
NM_000143.4:c.906C= MANE Select NP_000134.2:p.Gly302=