Canonical Allele Identifier: CA1229580623
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508621A= , CM000663.2:g.241508621A= GRCh38
NC_000001.10:g.241671921A= , CM000663.1:g.241671921A= GRCh37
NC_000001.9:g.239738544A= NCBI36
NG_012338.1:g.16134T= , LRG_504:g.16134T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1223T=
ENST00000682162.1:c.749T= ENSP00000508203.1:n.749T=
ENST00000682567.1:n.797T=
ENST00000683521.1:c.720T= ENSP00000506864.1:p.Val240=
ENST00000684161.1:n.1935T=
ENST00000684483.1:c.*116T= ENSP00000507894.1:n.*116T=
ENST00000366560.4:c.720T= MANE Select ENSP00000355518.4:p.Val240=
ENST00000366560.3:c.720T= ENSP00000355518.3:p.Val240=
NM_000143.3:c.720T= , LRG_504t1:c.720T= NP_000134.2:p.Val240=
XM_011544132.1:c.492T= XP_011542434.1:p.Val164=
XM_011544132.2:c.492T= XP_011542434.1:p.Val164=
NM_000143.4:c.720T= MANE Select NP_000134.2:p.Val240=