Canonical Allele Identifier: CA1229580655
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508671C= , CM000663.2:g.241508671C= GRCh38
NC_000001.10:g.241671971C= , CM000663.1:g.241671971C= GRCh37
NC_000001.9:g.239738594C= NCBI36
NG_012338.1:g.16084G= , LRG_504:g.16084G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1173G=
ENST00000682162.1:c.699G= ENSP00000508203.1:n.699G=
ENST00000682567.1:n.747G=
ENST00000683521.1:c.670G= ENSP00000506864.1:p.Glu224=
ENST00000684161.1:n.1885G=
ENST00000684483.1:c.*66G= ENSP00000507894.1:n.*66G=
ENST00000366560.4:c.670G= MANE Select ENSP00000355518.4:p.Glu224=
ENST00000366560.3:c.670G= ENSP00000355518.3:p.Glu224=
NM_000143.3:c.670G= , LRG_504t1:c.670G= NP_000134.2:p.Glu224=
XM_011544132.1:c.442G= XP_011542434.1:p.Glu148=
XM_011544132.2:c.442G= XP_011542434.1:p.Glu148=
NM_000143.4:c.670G= MANE Select NP_000134.2:p.Glu224=