Canonical Allele Identifier: CA1229580627
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508632G= , CM000663.2:g.241508632G= GRCh38
NC_000001.10:g.241671932G= , CM000663.1:g.241671932G= GRCh37
NC_000001.9:g.239738555G= NCBI36
NG_012338.1:g.16123C= , LRG_504:g.16123C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1212C=
ENST00000682162.1:c.738C= ENSP00000508203.1:n.738C=
ENST00000682567.1:n.786C=
ENST00000683521.1:c.709C= ENSP00000506864.1:p.Gln237=
ENST00000684161.1:n.1924C=
ENST00000684483.1:c.*105C= ENSP00000507894.1:n.*105C=
ENST00000366560.4:c.709C= MANE Select ENSP00000355518.4:p.Gln237=
ENST00000366560.3:c.709C= ENSP00000355518.3:p.Gln237=
NM_000143.3:c.709C= , LRG_504t1:c.709C= NP_000134.2:p.Gln237=
XM_011544132.1:c.481C= XP_011542434.1:p.Gln161=
XM_011544132.2:c.481C= XP_011542434.1:p.Gln161=
NM_000143.4:c.709C= MANE Select NP_000134.2:p.Gln237=