Canonical Allele Identifier: CA1143389026
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500572A= , CM000663.2:g.241500572A= GRCh38
NC_000001.10:g.241663872A= , CM000663.1:g.241663872A= GRCh37
NC_000001.9:g.239730495A= NCBI36
NG_012338.1:g.24183T= , LRG_504:g.24183T=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1758T=
ENST00000682162.1:c.1284T= ENSP00000508203.1:n.1284T=
ENST00000682567.1:n.4655T=
ENST00000683521.1:c.1255T= ENSP00000506864.1:p.Ser419=
ENST00000684161.1:n.2470T=
ENST00000684483.1:c.*651T= ENSP00000507894.1:n.*651T=
ENST00000366560.4:c.1255T= MANE Select ENSP00000355518.4:p.Ser419=
ENST00000366560.3:c.1255T= ENSP00000355518.3:p.Ser419=
NM_000143.3:c.1255T= , LRG_504t1:c.1255T= NP_000134.2:p.Ser419=
XM_011544132.1:c.1027T= XP_011542434.1:p.Ser343=
XM_011544132.2:c.1027T= XP_011542434.1:p.Ser343=
NM_000143.4:c.1255T= MANE Select NP_000134.2:p.Ser419=