Canonical Allele Identifier: CA1229584133
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517292C= , CM000663.2:g.241517292C= GRCh38
NC_000001.10:g.241680592C= , CM000663.1:g.241680592C= GRCh37
NC_000001.9:g.239747215C= NCBI36
NG_012338.1:g.7463G= , LRG_504:g.7463G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.660G=
ENST00000682162.1:c.186G= ENSP00000508203.1:p.Ter62=
ENST00000682567.1:n.234G=
ENST00000683521.1:c.157G= ENSP00000506864.1:p.Glu53=
ENST00000684483.1:c.157G= ENSP00000507894.1:p.Glu53=
ENST00000366560.4:c.157G= MANE Select ENSP00000355518.4:p.Glu53=
ENST00000366560.3:c.157G= ENSP00000355518.3:p.Glu53=
ENST00000493477.1:n.270G=
NM_000143.3:c.157G= , LRG_504t1:c.157G= NP_000134.2:p.Glu53=
XM_011544132.1:c.-72G= XP_011542434.1:n.-72G=
XM_011544132.2:c.-72G= XP_011542434.1:n.-72G=
NM_000143.4:c.157G= MANE Select NP_000134.2:p.Glu53=