Canonical Allele Identifier: CA1229578123
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502469C= , CM000663.2:g.241502469C= GRCh38
NC_000001.10:g.241665769C= , CM000663.1:g.241665769C= GRCh37
NC_000001.9:g.239732392C= NCBI36
NG_012338.1:g.22286G= , LRG_504:g.22286G=

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1713G=
ENST00000682162.1:c.1239G= ENSP00000508203.1:n.1239G=
ENST00000682567.1:n.2758G=
ENST00000683521.1:c.1210G= ENSP00000506864.1:p.Glu404=
ENST00000684161.1:n.2425G=
ENST00000684483.1:c.*606G= ENSP00000507894.1:n.*606G=
ENST00000366560.4:c.1210G= MANE Select ENSP00000355518.4:p.Glu404=
ENST00000366560.3:c.1210G= ENSP00000355518.3:p.Glu404=
NM_000143.3:c.1210G= , LRG_504t1:c.1210G= NP_000134.2:p.Glu404=
XM_011544132.1:c.982G= XP_011542434.1:p.Glu328=
XM_011544132.2:c.982G= XP_011542434.1:p.Glu328=
NM_000143.4:c.1210G= MANE Select NP_000134.2:p.Glu404=