Canonical Allele Identifier: CA1229580543
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508439A= , CM000663.2:g.241508439A= GRCh38
NC_000001.10:g.241671739A= , CM000663.1:g.241671739A= GRCh37
NC_000001.9:g.239738362A= NCBI36
NG_012338.1:g.16316T= , LRG_504:g.16316T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1241+164T=
ENST00000682162.1:c.767+164T= ENSP00000508203.1:n.767+164T=
ENST00000682567.1:n.815+164T=
ENST00000683521.1:c.738+164T= ENSP00000506864.1:n.738+164T=
ENST00000684161.1:n.1953+164T=
ENST00000684483.1:c.*134+164T= ENSP00000507894.1:n.*134+164T=
ENST00000366560.4:c.738+164T= MANE Select ENSP00000355518.4:n.738+164T=
ENST00000366560.3:c.738+164T= ENSP00000355518.3:n.738+164T=
NM_000143.3:c.738+164T= , LRG_504t1:c.738+164T= NP_000134.2:n.738+164T=
XM_011544132.1:c.510+164T= XP_011542434.1:n.510+164T=
XM_011544132.2:c.510+164T= XP_011542434.1:n.510+164T=
NM_000143.4:c.738+164T= MANE Select NP_000134.2:n.738+164T=