Canonical Allele Identifier: CA1140265731
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508686C= , CM000663.2:g.241508686C= GRCh38
NC_000001.10:g.241671986C= , CM000663.1:g.241671986C= GRCh37
NC_000001.9:g.239738609C= NCBI36
NG_012338.1:g.16069G= , LRG_504:g.16069G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1158G=
ENST00000682162.1:c.684G= ENSP00000508203.1:n.684G=
ENST00000682567.1:n.732G=
ENST00000683521.1:c.655G= ENSP00000506864.1:p.Asp219=
ENST00000684161.1:n.1870G=
ENST00000684483.1:c.*51G= ENSP00000507894.1:n.*51G=
ENST00000366560.4:c.655G= MANE Select ENSP00000355518.4:p.Asp219=
ENST00000366560.3:c.655G= ENSP00000355518.3:p.Asp219=
NM_000143.3:c.655G= , LRG_504t1:c.655G= NP_000134.2:p.Asp219=
XM_011544132.1:c.427G= XP_011542434.1:p.Asp143=
XM_011544132.2:c.427G= XP_011542434.1:p.Asp143=
NM_000143.4:c.655G= MANE Select NP_000134.2:p.Asp219=